PedAM
Pediatric Disease Annotations & Medicines
| breast cancer | ||||
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:2666) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1001179 | 23053794 | 10249 | GLYAT | umls:C0006142 | BeFree | Highly active women harboring variant alleles in CAT rs1001179 were at increased risk of breast cancer compared with women with the common CC genotype (OR = 1.61; 95 % CI, 1.06-2.45). | 0.003800186 | 2012 | CAT | 11 | 34438684 | C | T |
| rs10012 | 19229255 | 1543 | CYP1A1 | umls:C0006142 | BeFree | To examine the association between six SNPs, CYP1A1(*)2A, CYP1A1(*)2C, CYP1A2(*)1F, CYP1B1 Arg(48)Gly, CYP1B1 Leu(432)Val and CYP3A5*3 and breast cancer risk, therefore, we conducted hospital-based case-control studies in Nagano, Japan and São Paulo, Brazil including 873 pairs (403 Japanese (JJ), 81 Japanese Brazilians (JB) and 389 non-Japanese Brazilians (NJB)). | 0.103886885 | 2009 | CYP1B1;LOC105374860 | 2 | 38075247 | G | C |
| rs1003623 | 21454829 | 2950 | GSTP1 | umls:C0006142 | BeFree | Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. | 0.099000931 | 2011 | ATM | 11 | 108281855 | C | T |
| rs10046 | 23935996 | 1588 | CYP19A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.113930234 | 2013 | CYP19A1;PIRC66 | 15 | 51210789 | G | A |
| rs10046 | 23342035 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk: from a case-control to a meta-analysis of 20,098 subjects. | 0.113930234 | 2013 | CYP19A1;PIRC66 | 15 | 51210789 | G | A |
| rs10046 | 18049890 | 2064 | ERBB2 | umls:C0006142 | BeFree | SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes are associated with an altered DFS. | 0.24 | 2008 | CYP19A1;PIRC66 | 15 | 51210789 | G | A |
| rs10046 | 23935996 | 54658 | UGT1A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.027741948 | 2013 | CYP19A1;PIRC66 | 15 | 51210789 | G | A |
| rs10046 | 24402127 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset of human breast cancer. | 0.113930234 | 2013 | CYP19A1;PIRC66 | 15 | 51210789 | G | A |
| rs10046 | 23935996 | 5241 | PGR | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.132074704 | 2013 | CYP19A1;PIRC66 | 15 | 51210789 | G | A |
| rs10069690 | 23535733 | 7015 | TERT | umls:C0006142 | GWASCAT | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. | 0.13842571 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 24325915 | 7015 | TERT | umls:C0006142 | GWASCAT | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). | 0.13842571 | 2014 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 24325915 | 22913 | RALY | umls:C0006142 | BeFree | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). | 0.120271442 | 2014 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23629941 | 7011 | TEP1 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.005005506 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23136140 | 5241 | PGR | umls:C0006142 | BeFree | Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. | 0.132074704 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23629941 | 8658 | TNKS | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007372538 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 22037553 | 7015 | TERT | umls:C0006142 | GWASCAT | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. | 0.13842571 | 2011 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23629941 | 7014 | TERF2 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007915422 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 24325915 | 5195 | PEX14 | umls:C0006142 | BeFree | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). | 0.120271442 | 2014 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23629941 | 7015 | TERT | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.13842571 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23535729 | 7015 | TERT | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.13842571 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23136140 | 7015 | TERT | umls:C0006142 | BeFree | Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. | 0.13842571 | 2013 | TERT | 5 | 1279675 | C | T |
| rs10069690 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | TERT | 5 | 1279675 | C | T |
| rs1008805 | 17975727 | 5241 | PGR | umls:C0006142 | BeFree | Among premenopausal women, the presence of at least one G allele at rs1008805 was significantly associated with an increase in the risk of breast cancer (OR = 1.72 [95% CI, 1.20-2.49]), especially with estrogen and progesterone receptor negative breast cancer (OR = 3.89 [1.74-8.70] and OR = 2.52 [1.26-5.05], respectively). | 0.132074704 | 2008 | CYP19A1;PIRC66 | 15 | 51257402 | G | A |
| rs1008805 | 17975727 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Our results suggest that premenopausal women carrying the G allele at CYP19 rs1008805 have increased risk of breast cancer. | 0.113930234 | 2008 | CYP19A1;PIRC66 | 15 | 51257402 | G | A |
| rs10109984 | 17764108 | 5591 | PRKDC | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.011639663 | 2008 | PRKDC | 8 | 47891114 | T | C |
| rs10109984 | 17764108 | 672 | BRCA1 | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.36 | 2008 | PRKDC | 8 | 47891114 | T | C |
| rs10109984 | 17764108 | 7486 | WRN | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.010553895 | 2008 | PRKDC | 8 | 47891114 | T | C |
| rs1011970 | 20453838 | 100048912 | CDKN2B-AS1 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.12 | 2010 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 23593120 | 55603 | FAM46A | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.000271442 | 2013 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 23535729 | 100048912 | CDKN2B-AS1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 22348646 | 2099 | ESR1 | umls:C0006142 | BeFree | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). | 0.24 | 2012 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 23593120 | 440193 | CCDC88C | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.120271442 | 2013 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1011970 | 23593120 | 1029 | CDKN2A | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.043366024 | 2013 | CDKN2B-AS1 | 9 | 22062135 | G | T |
| rs1012477 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | PER3 | 1 | 7798075 | G | C |
| rs1012477 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | PER3 | 1 | 7798075 | G | C |
| rs1012477 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | PER3 | 1 | 7798075 | G | C |
| rs1012477 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | PER3 | 1 | 7798075 | G | C |
| rs1012477 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | PER3 | 1 | 7798075 | G | C |
| rs1012477 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | PER3 | 1 | 7798075 | G | C |
| rs10145182 | 20508983 | 51199 | NIN | umls:C0006142 | BeFree | A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer. | 0.002638474 | 2011 | NIN | 14 | 50809291 | T | A |
| rs10145182 | 20508983 | 7283 | TUBG1 | umls:C0006142 | BeFree | A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer. | 0.002909916 | 2011 | NIN | 14 | 50809291 | T | A |
| rs10169372 | 20699374 | 140468 | COX11P1 | umls:C0006142 | BeFree | In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). | 0.001085767 | 2010 | LOC101928278 | 2 | 217006626 | A | G |
| rs1017226 | 24493630 | 4214 | MAP3K1 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.166482707 | 2015 | MAP3K1 | 5 | 56857565 | T | C |
| rs1024611 | 24164868 | 3565 | IL4 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.01062984 | 2013 | NA | 17 | 34252769 | A | G |
| rs1024611 | 24164868 | 3447 | IFNA13 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.003257302 | 2013 | NA | 17 | 34252769 | A | G |
| rs1024611 | 24164868 | 3458 | IFNG | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.019435532 | 2013 | NA | 17 | 34252769 | A | G |
| rs1024611 | 24164868 | 6347 | CCL2 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.005700279 | 2013 | NA | 17 | 34252769 | A | G |
| rs1034794 | 22527105 | 25913 | POT1 | umls:C0006142 | BeFree | A similar reduced trend for breast cancer-specific mortality was observed for carrying the TERT-14 (rs2853677) T-allele (HR=0.57, 95% CI: 0.39-0.84), while carrying the POT1-18 (rs1034794) T-allele significantly increased breast cancer-specific mortality (HR=1.48, 95% CI: 1.00-2.19). | 0.008458305 | 2012 | NA | 7 | 124801348 | A | T |
| rs1034794 | 22527105 | 7015 | TERT | umls:C0006142 | BeFree | A similar reduced trend for breast cancer-specific mortality was observed for carrying the TERT-14 (rs2853677) T-allele (HR=0.57, 95% CI: 0.39-0.84), while carrying the POT1-18 (rs1034794) T-allele significantly increased breast cancer-specific mortality (HR=1.48, 95% CI: 1.00-2.19). | 0.13842571 | 2012 | NA | 7 | 124801348 | A | T |
| rs10380 | 24130171 | 6573 | SLC19A1 | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.005624334 | 2014 | MTRR | 5 | 7897078 | C | T |
| rs10380 | 24130171 | 4524 | MTHFR | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.100901024 | 2014 | MTRR | 5 | 7897078 | C | T |
| rs10380 | 24130171 | 4552 | MTRR | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.016916611 | 2014 | MTRR | 5 | 7897078 | C | T |
| rs1041981 | 23996684 | 3601 | IL15RA | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1041981 | 23996684 | 7040 | TGFB1 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.09001189 | 2013 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1041981 | 23996684 | 3566 | IL4R | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.005276948 | 2013 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1041981 | 23996684 | 3460 | IFNGR2 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1042031 | 23444115 | 338 | APOB | umls:C0006142 | BeFree | Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast cancer in Chinese. | 0.000542884 | 2013 | APOB | 2 | 21002881 | C | T,A |
| rs1042522 | 17696741 | 2944 | GSTM1 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.101986792 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22729912 | 4193 | MDM2 | umls:C0006142 | BeFree | Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis. | 0.05931642 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23793604 | 4194 | MDM4 | umls:C0006142 | BeFree | Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, contributes to breast cancer susceptibility. | 0.133148762 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 25169539 | 7157 | TP53 | umls:C0006142 | BeFree | The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians. | 0.24 | 2015 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17909070 | 7157 | TP53 | umls:C0006142 | BeFree | Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. | 0.24 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21667122 | 4193 | MDM2 | umls:C0006142 | BeFree | Association of the germline TP53 R72P and MDM2 SNP309 variants with breast cancer survival in specific breast tumor subgroups. | 0.05931642 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18781154 | 675 | BRCA2 | umls:C0006142 | BeFree | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. | 0.48 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18820009 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype of CYP19A1 codon 39 (rs2236722), the methionine (Met) allele of COMT codon 158 (rs4680) or Pro allele of p53 codon 72 (rs1042522) were more frequent in ER-positive than ER-negative breast cancer, especially in patients less than 50-year old. | 0.113930234 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 15183535 | 7157 | TP53 | umls:C0006142 | BeFree | Association of p53 genetic polymorphism (Arg72Pro) with estrogen receptor positive breast cancer risk in Japanese women. | 0.24 | 2004 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18058229 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.24 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21365326 | 7157 | TP53 | umls:C0006142 | BeFree | The TP53 gene polymorphisms, Arg72Pro and PIN3 (+16 bp), can have prognostic and predictive value in different cancers including breast cancer. | 0.24 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 14634508 | 7161 | TP73 | umls:C0006142 | BeFree | Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. | 0.010705785 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20021639 | 4193 | MDM2 | umls:C0006142 | BeFree | We pooled data from four breast cancer cohorts within the Breast Cancer Association Consortium for which both TP53 R72P and MDM2 SNP309 were genotyped and follow-up was available (n = 3,749). | 0.05931642 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21479369 | 4193 | MDM2 | umls:C0006142 | BeFree | Involvement of p53 R72P polymorphism in the association of MDM2-SNP309 with breast cancer. | 0.05931642 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17696741 | 2950 | GSTP1 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.099000931 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21667122 | 7157 | TP53 | umls:C0006142 | BeFree | Association of the germline TP53 R72P and MDM2 SNP309 variants with breast cancer survival in specific breast tumor subgroups. | 0.24 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18058229 | 7157 | TP53 | umls:C0006142 | BeFree | TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian women and TGFbeta1 Pro (Leu10Pro) allele predicts response to neo-adjuvant chemo-radiotherapy. | 0.24 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 19639206 | 7157 | TP53 | umls:C0006142 | BeFree | The significance of MDM2 SNP309 and p53 Arg72Pro in young women with breast cancer. | 0.24 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17387621 | 7157 | TP53 | umls:C0006142 | BeFree | The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. | 0.24 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 15138483 | 7157 | TP53 | umls:C0006142 | BeFree | Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. | 0.24 | 2004 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 14634508 | 83478 | ARHGAP24 | umls:C0006142 | BeFree | Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. | 0.005157396 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23716179 | 7157 | TP53 | umls:C0006142 | BeFree | Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. | 0.24 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18058229 | 2952 | GSTT1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.09601507 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17696741 | 7157 | TP53 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.24 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22729912 | 7157 | TP53 | umls:C0006142 | BeFree | Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis. | 0.24 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 24114315 | 5888 | RAD51 | umls:C0006142 | BeFree | RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. | 0.215831722 | 2015 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 16314399 | 5241 | PGR | umls:C0006142 | BeFree | These findings indicate that the SNPs in P53BP1 and p53 jointly contribute to breast cancer risk, particularly ER (-) or PR (-) breast cancer, and the p53 Arg72Pro polymorphism may serve as a risk modifier. | 0.132074704 | 2006 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 16033823 | 7157 | TP53 | umls:C0006142 | BeFree | The p53 R72P polymorphism has been suggested to play a role in many cancers, including breast cancer. | 0.24 | 2005 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18058229 | 2950 | GSTP1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.099000931 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21479369 | 7157 | TP53 | umls:C0006142 | BeFree | Involvement of p53 R72P polymorphism in the association of MDM2-SNP309 with breast cancer. | 0.24 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21833626 | 4193 | MDM2 | umls:C0006142 | BeFree | Combined effects of MDM2 SNP309 and TP53 R72P polymorphisms, and soy isoflavones on breast cancer risk among Chinese women in Singapore. | 0.05931642 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 14634508 | 7157 | TP53 | umls:C0006142 | BeFree | Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. | 0.24 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 19639206 | 4193 | MDM2 | umls:C0006142 | BeFree | The significance of MDM2 SNP309 and p53 Arg72Pro in young women with breast cancer. | 0.05931642 | 2009 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23716179 | 2321 | FLT1 | umls:C0006142 | BeFree | Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. | 0.004885954 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18820009 | 7157 | TP53 | umls:C0006142 | BeFree | Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype of CYP19A1 codon 39 (rs2236722), the methionine (Met) allele of COMT codon 158 (rs4680) or Pro allele of p53 codon 72 (rs1042522) were more frequent in ER-positive than ER-negative breast cancer, especially in patients less than 50-year old. | 0.24 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17909070 | 4193 | MDM2 | umls:C0006142 | BeFree | Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. | 0.05931642 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21706156 | 7157 | TP53 | umls:C0006142 | BeFree | MDM2 SNP309 and TP53 R72P associated with severe and febrile neutropenia in breast cancer patients treated with 5-FU/epirubicin/cyclophosphamide. | 0.24 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23793604 | 7157 | TP53 | umls:C0006142 | BeFree | Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, contributes to breast cancer susceptibility. | 0.24 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18781154 | 7157 | TP53 | umls:C0006142 | BeFree | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. | 0.24 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18781154 | 672 | BRCA1 | umls:C0006142 | BeFree | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. | 0.36 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 24114315 | 7157 | TP53 | umls:C0006142 | BeFree | RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. | 0.24 | 2015 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 16314399 | 2099 | ESR1 | umls:C0006142 | BeFree | These findings indicate that the SNPs in P53BP1 and p53 jointly contribute to breast cancer risk, particularly ER (-) or PR (-) breast cancer, and the p53 Arg72Pro polymorphism may serve as a risk modifier. | 0.24 | 2006 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20233677 | 7157 | TP53 | umls:C0006142 | BeFree | The present study was undertaken to investigate the association of p53 Arg72Pro, Ins16bp and G13964C polymorphisms and their haplotypes with breast cancer risk in Tunisian women. | 0.24 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 25854391 | 7157 | TP53 | umls:C0006142 | BeFree | Lack of influence of TP53 Arg72Pro and 16bp duplication polymorphisms on risk of breast cancer in Iran. | 0.24 | 2015 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18058229 | 2944 | GSTM1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.101986792 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 15183535 | 2099 | ESR1 | umls:C0006142 | BeFree | Association of p53 genetic polymorphism (Arg72Pro) with estrogen receptor positive breast cancer risk in Japanese women. | 0.24 | 2004 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17387621 | 4193 | MDM2 | umls:C0006142 | BeFree | The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. | 0.05931642 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21833626 | 7157 | TP53 | umls:C0006142 | BeFree | Combined effects of MDM2 SNP309 and TP53 R72P polymorphisms, and soy isoflavones on breast cancer risk among Chinese women in Singapore. | 0.24 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042638 | 16614108 | 221391 | OPN5 | umls:C0006142 | BeFree | After both stages, only one SNP was significantly associated with an increased risk of breast cancer - the PGR-12 (rs1042638) V660L valine to leucine polymorphism [VL heterozygotes (odds ratio, 1.13; 95% confidence interval, 1.03-1.24) and the LL homozygotes (odds ratio, 1.30; 95% confidence interval, 0.98-1.73), P(het) = 0.008, P(trend) = 0.002]. | 0.000271442 | 2006 | TPD52 | 8 | 80037711 | G | A |
| rs1042821 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 19781088 | 4437 | MSH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.012605878 | 2009 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 19781088 | 27030 | MLH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.002909916 | 2009 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 19781088 | 4438 | MSH4 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.000271442 | 2009 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042821 | 19781088 | 2956 | MSH6 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.015363904 | 2009 | MSH6 | 2 | 47783349 | G | C,A |
| rs1042838 | 23935996 | 54658 | UGT1A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.027741948 | 2013 | PGR | 11 | 101062681 | C | A |
| rs1042838 | 18628428 | 5241 | PGR | umls:C0006142 | BeFree | The increased risk of breast cancer associated with E+P use was greater among women with at least one rare allele of the CYP1A1 Ile(462)Val, CYP1A1 MspI, CYP1B1 Asn(453)Ser, and PGR Val(660)Leu polymorphisms than among women homozygous for the common allele of these polymorphisms. | 0.132074704 | 2008 | PGR | 11 | 101062681 | C | A |
| rs1042838 | 23935996 | 5241 | PGR | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.132074704 | 2013 | PGR | 11 | 101062681 | C | A |
| rs1042838 | 18628428 | 1543 | CYP1A1 | umls:C0006142 | BeFree | The increased risk of breast cancer associated with E+P use was greater among women with at least one rare allele of the CYP1A1 Ile(462)Val, CYP1A1 MspI, CYP1B1 Asn(453)Ser, and PGR Val(660)Leu polymorphisms than among women homozygous for the common allele of these polymorphisms. | 0.103886885 | 2008 | PGR | 11 | 101062681 | C | A |
| rs1042838 | 19423537 | 637 | BID | umls:C0006142 | BeFree | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. | 0.005819831 | 2009 | PGR | 11 | 101062681 | C | A |
| rs1042838 | 23935996 | 1588 | CYP19A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.113930234 | 2013 | PGR | 11 | 101062681 | C | A |
| rs1042838 | 12010857 | 5241 | PGR | umls:C0006142 | BeFree | The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. | 0.132074704 | 2002 | PGR | 11 | 101062681 | C | A |
| rs1045485 | 18362937 | 841 | CASP8 | umls:C0006142 | BeFree | Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifically, the D302H variant (rs1045485) with breast cancer in the European population and the -652 6N ins/del promoter variant (rs3834129) with multiple tumours including colorectal cancer (CRC) in the Chinese population. | 0.049197125 | 2008 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 19367188 | 841 | CASP8 | umls:C0006142 | BeFree | Both approaches showed statistically significant decreased breast cancer risks for CASP8 D302H. | 0.049197125 | 2009 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 16251207 | 841 | CASP8 | umls:C0006142 | BeFree | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. | 0.049197125 | 2006 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 19214744 | 841 | CASP8 | umls:C0006142 | BeFree | CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. | 0.049197125 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 841 | CASP8 | umls:C0006142 | BeFree | The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; P(trend) = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; P(trend) = 0.004) for BRCA1 but not for BRCA2 mutation carriers. | 0.049197125 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 19214744 | 675 | BRCA2 | umls:C0006142 | BeFree | CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. | 0.48 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 25553350 | 841 | CASP8 | umls:C0006142 | BeFree | CASP8 D302H was found to be only associated with breast cancer risk. | 0.049197125 | 2014 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 17932347 | 841 | CASP8 | umls:C0006142 | BeFree | In multivariate analyses, we observed a significantly decreased risk of breast cancer associated with the homozygous minor allele of CASP8 D302H [rs1045485, odds ratio (OR), 0.3; 95% confidence interval (95% CI), 0.1-0.8]. | 0.049197125 | 2007 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 672 | BRCA1 | umls:C0006142 | BeFree | The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; P(trend) = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; P(trend) = 0.004) for BRCA1 but not for BRCA2 mutation carriers. | 0.36 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 18823701 | 841 | CASP8 | umls:C0006142 | BeFree | The CASP8 polymorphism D302H has recently been shown to influence the risk of breast cancer. | 0.049197125 | 2009 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20033885 | 841 | CASP8 | umls:C0006142 | BeFree | Recent work in breast carcinoma has implicated the histidine variant of CASP8 D302H (rs1045485) as a protective risk allele. | 0.049197125 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 19214744 | 672 | BRCA1 | umls:C0006142 | BeFree | CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. | 0.36 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 843 | CASP10 | umls:C0006142 | BeFree | Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population. | 0.005819831 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 675 | BRCA2 | umls:C0006142 | BeFree | The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; P(trend) = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; P(trend) = 0.004) for BRCA1 but not for BRCA2 mutation carriers. | 0.48 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 16251207 | 843 | CASP10 | umls:C0006142 | BeFree | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. | 0.005819831 | 2006 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | CASP8 | 2 | 201284866 | G | C |
| rs1045494 | 25390939 | 374659 | HDDC3 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | CASP8 | 2 | 201287058 | T | C |
| rs1045494 | 25390939 | 29102 | DROSHA | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | CASP8 | 2 | 201287058 | T | C |
| rs1045494 | 25390939 | 841 | CASP8 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.049197125 | 2014 | CASP8 | 2 | 201287058 | T | C |
| rs1045494 | 25390939 | 4610 | MYCL | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.005005506 | 2014 | CASP8 | 2 | 201287058 | T | C |
| rs1045494 | 25390939 | 389125 | MUSTN1 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | CASP8 | 2 | 201287058 | T | C |
| rs1045642 | 19151448 | 5243 | ABCB1 | umls:C0006142 | BeFree | Polymorphism C3435T of the MDR-1 gene predict response to preoperative chemotherapy in locally advanced breast cancer with Her2/neu expression. | 0.096710723 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 17560460 | 5243 | ABCB1 | umls:C0006142 | BeFree | MDR1 C3435T polymorphism in patients with breast cancer. | 0.096710723 | 2007 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 22160574 | 5243 | ABCB1 | umls:C0006142 | BeFree | The available evidence indicates that MDR1 C3435T polymorphism cannot be considered as a reliable predictor of response to chemotherapy in patients with advanced breast cancer. | 0.096710723 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 18393221 | 5243 | ABCB1 | umls:C0006142 | BeFree | Correlation of polymorphism C3435T of the MDR-1 gene and the response of primary chemotherapy in women with locally advanced breast cancer. | 0.096710723 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24933103 | 7515 | XRCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.098186605 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 20371218 | 5243 | ABCB1 | umls:C0006142 | BeFree | The distribution of TSER (TYMS), C677T (MTHFR), Arg72Pro (p53) and C3435T (MDR1) gene polymorphisms was investigated in 80 consecutive breast cancer patients treated with adjuvant chemotherapy. | 0.096710723 | 2010 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24933103 | 2067 | ERCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.017806881 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24933103 | 2068 | ERCC2 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.083616838 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 20628376 | 5243 | ABCB1 | umls:C0006142 | BeFree | Effect of ABCB1 C3435T polymorphism on docetaxel pharmacokinetics according to menopausal status in breast cancer patients. | 0.096710723 | 2010 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24933103 | 672 | BRCA1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.36 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24933103 | 5243 | ABCB1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.096710723 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 19752884 | 5243 | ABCB1 | umls:C0006142 | BeFree | MDR1 (C3435T) polymorphism: relation to the risk of breast cancer and therapeutic outcome. | 0.096710723 | 2010 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24933103 | 7517 | XRCC3 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.084507108 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 24070710 | 5243 | ABCB1 | umls:C0006142 | BeFree | Association between MDR1 C3435T polymorphism and risk of breast cancer. | 0.096710723 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 19388849 | 5243 | ABCB1 | umls:C0006142 | BeFree | Association of C3435T single-nucleotide polymorphism of MDR1 gene with breast cancer in an Iranian population. | 0.096710723 | 2009 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 25062490 | 5243 | ABCB1 | umls:C0006142 | BeFree | MDR1 C3435T polymorphism in Mexican patients with breast cancer. | 0.096710723 | 2015 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 19151448 | 2064 | ERBB2 | umls:C0006142 | BeFree | Polymorphism C3435T of the MDR-1 gene predict response to preoperative chemotherapy in locally advanced breast cancer with Her2/neu expression. | 0.24 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 12684679 | 5243 | ABCB1 | umls:C0006142 | BeFree | Polymorphism C3435T of the MDR-1 gene predicts response to preoperative chemotherapy in locally advanced breast cancer. | 0.096710723 | 2003 | ABCB1 | 7 | 87509329 | A | T,G |
| rs10474352 | 25038754 | 9877 | ZC3H11A | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120271442 | 2014 | NA | 5 | 91436408 | C | T |
| rs10474352 | 25038754 | 57561 | ARRDC3 | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.000814326 | 2014 | NA | 5 | 91436408 | C | T |
| rs10474352 | 25038754 | 9055 | PRC1 | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120814326 | 2014 | NA | 5 | 91436408 | C | T |
| rs1047769 | 18767034 | 2072 | ERCC4 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.031933128 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102861594 | A | G |
| rs1047769 | 18767034 | 2074 | ERCC6 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.00973957 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102861594 | A | G |
| rs1047972 | 23803310 | 6790 | AURKA | umls:C0006142 | BeFree | Two nonsynonymous polymorphisms (F31I and V57I) of the STK15 gene and breast cancer risk: a meta-analysis based on 5966 cases and 7609 controls. | 0.038252236 | 2014 | AURKA | 20 | 56386407 | T | C |
| rs1047972 | 25154511 | 6790 | AURKA | umls:C0006142 | BeFree | In summary, this meta-analysis suggests that STK15 F31I polymorphism is associated with increased breast cancer and ovarian cancer risk among Caucasians, F31I polymorphism is associated with decreased lung cancer risk among Caucasians, and V57I polymorphism is associated with decreased breast cancer risk among Caucasians. | 0.038252236 | 2014 | AURKA | 20 | 56386407 | T | C |
| rs10483813 | 20095854 | 5890 | RAD51B | umls:C0006142 | BeFree | We did not find significant variation in the radiation-related breast cancer risk for the variant in RAD51L1 (rs10483813) on 14q24.1 as we had hypothesized. | 0.132453989 | 2010 | RAD51B;LOC105370545 | 14 | 68564567 | T | A |
| rs104886003 | 25027743 | 2064 | ERBB2 | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.24 | 2014 | PIK3CA | 3 | 179218303 | G | A |
| rs104886003 | 25027743 | 5728 | PTEN | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.050651348 | 2014 | PIK3CA | 3 | 179218303 | G | A |
| rs104886003 | 25027743 | 1956 | EGFR | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.10367032 | 2014 | PIK3CA | 3 | 179218303 | G | A |
| rs104886003 | 21775521 | 5290 | PIK3CA | umls:C0006142 | BeFree | We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation. | 0.30437577 | 2011 | PIK3CA | 3 | 179218303 | G | A |
| rs1048943 | 23000097 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.096829396 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 23000097 | 1543 | CYP1A1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.103886885 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 23000097 | 1312 | COMT | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101172466 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 23000097 | 2944 | GSTM1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101986792 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 22292665 | 9360 | PPIG | umls:C0006142 | BeFree | We here carried out a population based case-control study of the CYP MspI (CYP1A1*1/M1) and Ile462Val (CYP1A1*2/M2) polymorphisms in CYP1A1 to clarify their importance in determining breast cancer susceptibility in a South Indian population. | 0.002714419 | 2011 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 23000097 | 2952 | GSTT1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.09601507 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 18628428 | 1543 | CYP1A1 | umls:C0006142 | BeFree | The increased risk of breast cancer associated with E+P use was greater among women with at least one rare allele of the CYP1A1 Ile(462)Val, CYP1A1 MspI, CYP1B1 Asn(453)Ser, and PGR Val(660)Leu polymorphisms than among women homozygous for the common allele of these polymorphisms. | 0.103886885 | 2008 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 23000097 | 2950 | GSTP1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.099000931 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 18628428 | 5241 | PGR | umls:C0006142 | BeFree | The increased risk of breast cancer associated with E+P use was greater among women with at least one rare allele of the CYP1A1 Ile(462)Val, CYP1A1 MspI, CYP1B1 Asn(453)Ser, and PGR Val(660)Leu polymorphisms than among women homozygous for the common allele of these polymorphisms. | 0.132074704 | 2008 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1050525 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | PCNA;PCNA-AS1 | 20 | 5119682 | G | T |
| rs10505477 | 25302443 | 727677 | CASC8 | umls:C0006142 | BeFree | Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were associated with risk of the colorectal cancer (CRC) and breast cancer, respectively. | 0.000271442 | 2014 | CASC8 | 8 | 127395198 | A | G |
| rs10509373 | 22180457 | 83938 | C10orf11 | umls:C0006142 | BeFree | Among them, rs10509373 in C10orf11 gene on 10q22 was significantly associated with recurrence-free survival in the replication study (log-rank P= 2.02 × 10(-4)) and a combined analysis indicated a strong association of this SNP with recurrence-free survival in breast cancer patients treated with tamoxifen (log-rank P= 1.26 × 10(-10)). | 0.000271442 | 2012 | C10orf11 | 10 | 76397814 | T | C |
| rs10509637 | 19766477 | 7014 | TERF2 | umls:C0006142 | BeFree | The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI 0.31-0.83) and rs10509637 (TNKS2, OR 1.33, 95% CI 1.08-1.62). | 0.007915422 | 2009 | TNKS2 | 10 | 91827975 | A | G |
| rs10510102 | 21263130 | 2263 | FGFR2 | umls:C0006142 | BeFree | A variant mapping to 10q26.13, approximately 300 kb telomeric to the established risk locus within the second intron of FGFR2, was also associated with breast cancer risk, although not at genome-wide statistical significance (rs10510102: OR = 1.12, 95% CI = 1.07 to 1.17, P = 1.58 × 10(-6)). | 0.229599312 | 2011 | ATE1 | 10 | 121865675 | T | C |
| rs10511729 | 25239644 | 1993 | ELAVL2 | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.001357209 | 2015 | LOC101929563 | 9 | 23557229 | T | G |
| rs10511729 | 25239644 | 1029 | CDKN2A | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.043366024 | 2015 | LOC101929563 | 9 | 23557229 | T | G |
| rs1051266 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 24130171 | 4552 | MTRR | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.016916611 | 2014 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 22134752 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.005624334 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 24130171 | 4524 | MTHFR | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.100901024 | 2014 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 22134752 | 6470 | SHMT1 | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.008458305 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 22134752 | 4524 | MTHFR | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.100901024 | 2012 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 24130171 | 6573 | SLC19A1 | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.005624334 | 2014 | SLC19A1 | 21 | 45537880 | T | C |
| rs10515083 | 20699374 | 140468 | COX11P1 | umls:C0006142 | BeFree | In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). | 0.001085767 | 2010 | NA | 17 | 54886696 | T | A |
| rs1051740 | 17416769 | 2944 | GSTM1 | umls:C0006142 | BeFree | We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to assess the roles of detoxification gene polymorphisms EPHX T>C Tyr(113)His, GSTT1 deletion, GSTM1 deletion, and GSTP1 A>G Ile(105)Val on risk of breast cancer. | 0.101986792 | 2007 | EPHX1 | 1 | 225831932 | T | C |
| rs1051740 | 17416769 | 2052 | EPHX1 | umls:C0006142 | BeFree | We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to assess the roles of detoxification gene polymorphisms EPHX T>C Tyr(113)His, GSTT1 deletion, GSTM1 deletion, and GSTP1 A>G Ile(105)Val on risk of breast cancer. | 0.010282454 | 2007 | EPHX1 | 1 | 225831932 | T | C |
| rs105213 | 25416100 | 6649 | SOD3 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
| rs105213 | 25416100 | 4968 | OGG1 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.026189242 | 2014 | NA | NA | NA | NA | NA |
| rs105213 | 25416100 | 257202 | GPX6 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
| rs1052133 | 12496039 | 675 | BRCA2 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.48 | 2002 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 20058067 | 4968 | OGG1 | umls:C0006142 | BeFree | The hOGG1 Ser326Cys polymorphism and breast cancer risk: a meta-analysis. | 0.026189242 | 2010 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 12496039 | 7515 | XRCC1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.098186605 | 2002 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 20054639 | 4968 | OGG1 | umls:C0006142 | BeFree | Lack of association between the hOGG1 Ser326Cys polymorphism and breast cancer risk: evidence from 11 case-control studies. | 0.026189242 | 2010 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 24893568 | 4968 | OGG1 | umls:C0006142 | BeFree | Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-analysis. | 0.026189242 | 2014 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 19391486 | 4968 | OGG1 | umls:C0006142 | BeFree | Ser326Cys polymorphism in DNA repair genes hOGG1 in breast cancer women. | 0.026189242 | 2008 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 12779082 | 4968 | OGG1 | umls:C0006142 | BeFree | hOGG1 Ser326Cys polymorphism and breast cancer risk among Asian women. | 0.026189242 | 2003 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 24893568 | 328 | APEX1 | umls:C0006142 | BeFree | Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-analysis. | 0.018816704 | 2014 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 12496039 | 4968 | OGG1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.026189242 | 2002 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052532 | 25390939 | 29102 | DROSHA | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | UNC45A;HDDC3 | 15 | 90931006 | T | C |
| rs1052532 | 25390939 | 389125 | MUSTN1 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | UNC45A;HDDC3 | 15 | 90931006 | T | C |
| rs1052532 | 25390939 | 841 | CASP8 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.049197125 | 2014 | UNC45A;HDDC3 | 15 | 90931006 | T | C |
| rs1052532 | 25390939 | 4610 | MYCL | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.005005506 | 2014 | UNC45A;HDDC3 | 15 | 90931006 | T | C |
| rs1052532 | 25390939 | 374659 | HDDC3 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | UNC45A;HDDC3 | 15 | 90931006 | T | C |
| rs1054016 | 24729980 | 8792 | TNFRSF11A | umls:C0006142 | BeFree | The effect of rs1054016(RANKL) adds to the evidence that the RANK pathway plays a role in BC pathogenesis and progression with respect to BMFS, emphasizing the connection between BC and bone health. | 0.003528744 | 2014 | TNFSF11 | 13 | 42607866 | G | T |
| rs1056503 | 24062231 | 7518 | XRCC4 | umls:C0006142 | BeFree | Genotypes in XRCC4 were associated with BC risk, with ORs of 1.67 (95 % CI 1.01-2.76) for the combined GA/AA of rs1805377 and 1.69 (95 % CI 1.03-2.77) for rs1056503 TG/GG; these associations were no longer statistically significant in multivariable conditional logistic regression models. | 0.016916611 | 2013 | XRCC4 | 5 | 83353158 | T | A,G |
| rs1056538 | 23079714 | 7087 | ICAM5 | umls:C0006142 | BeFree | Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphism may contribute to the susceptibility of breast cancer. | 0.000542884 | 2013 | ICAM5 | 19 | 10292262 | G | A |
| rs1056538 | 23079714 | 3383 | ICAM1 | umls:C0006142 | BeFree | Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphism may contribute to the susceptibility of breast cancer. | 0.005895776 | 2013 | ICAM5 | 19 | 10292262 | G | A |
| rs1056836 | 12618873 | 1588 | CYP19A1 | umls:C0006142 | BeFree | The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here. | 0.113930234 | 2003 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 23000097 | 2952 | GSTT1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.09601507 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 17053044 | 1545 | CYP1B1 | umls:C0006142 | BeFree | No association between the CYP1B1 Val432Leu polymorphism and breast cancer was observed in Asians (for Val/Val and Val/Leu combined, odds ratio (OR) = 1.0, 95% confidence interval (CI): 0.8, 1.2). | 0.096829396 | 2007 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 16103451 | 1543 | CYP1A1 | umls:C0006142 | BeFree | We investigated the associations between breast cancer and sequence variants in several genes in the estradiol/estrone metabolism pathway (CYP1A1*2A, CYP1A2*1F, CYP1B1 Leu432Val, CYP3A4*1B, COMT Val158Met, SULT1A1Arg213His) as well as the Arg554Lys variant in AHR (a transcription factor for CYP1A1, CYP1A2, and CYP1B1) in a case-control study of 1,339 breast cancer cases and 1,370 controls nested in the Multiethnic Cohort Study. | 0.103886885 | 2005 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 14734460 | 1545 | CYP1B1 | umls:C0006142 | BeFree | CYP1A1 codon 462 Ile/Val or Val/Val variants and the CYP1B1 codon 432 Leu/Val variant were found more in breast cancer patients </=35 years of age at onset than the common homozygote [odds ratio (OR), 1.6 and 1.7, respectively]. | 0.096829396 | 2004 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 23000097 | 2950 | GSTP1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.099000931 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 19214745 | 1545 | CYP1B1 | umls:C0006142 | GAD | [Assuming a recessive model, the minor allele of CYP1B1 V432L significantly increased the dose-response relationship between personal diagnostic X-ray exposure and breast cancer risk, adjusted for cumulative occupational radiation dose (p (interaction) = 0.03) and had a similar joint effect for cumulative occupational radiation dose adjusted for personal diagnostic X-ray exposure (p (interaction) = 0.06).] | 0.096829396 | 2009 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 23000097 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.096829396 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 19229255 | 1543 | CYP1A1 | umls:C0006142 | BeFree | To examine the association between six SNPs, CYP1A1(*)2A, CYP1A1(*)2C, CYP1A2(*)1F, CYP1B1 Arg(48)Gly, CYP1B1 Leu(432)Val and CYP3A5*3 and breast cancer risk, therefore, we conducted hospital-based case-control studies in Nagano, Japan and São Paulo, Brazil including 873 pairs (403 Japanese (JJ), 81 Japanese Brazilians (JB) and 389 non-Japanese Brazilians (NJB)). | 0.103886885 | 2009 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 12618873 | 1545 | CYP1B1 | umls:C0006142 | BeFree | The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here. | 0.096829396 | 2003 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 23000097 | 2944 | GSTM1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101986792 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 16103451 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We investigated the associations between breast cancer and sequence variants in several genes in the estradiol/estrone metabolism pathway (CYP1A1*2A, CYP1A2*1F, CYP1B1 Leu432Val, CYP3A4*1B, COMT Val158Met, SULT1A1Arg213His) as well as the Arg554Lys variant in AHR (a transcription factor for CYP1A1, CYP1A2, and CYP1B1) in a case-control study of 1,339 breast cancer cases and 1,370 controls nested in the Multiethnic Cohort Study. | 0.096829396 | 2005 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 23000097 | 1312 | COMT | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101172466 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 20033481 | 1545 | CYP1B1 | umls:C0006142 | BeFree | No association between CYP1B1 Val432Leu polymorphism and breast cancer risk: a meta-analysis involving 40,303 subjects. | 0.096829396 | 2010 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 19214745 | 1545 | CYP1B1 | umls:C0006142 | BeFree | Assuming a recessive model, the minor allele of CYP1B1 V432L significantly increased the dose-response relationship between personal diagnostic X-ray exposure and breast cancer risk, adjusted for cumulative occupational radiation dose (p (interaction) = 0.03) and had a similar joint effect for cumulative occupational radiation dose adjusted for personal diagnostic X-ray exposure (p (interaction) = 0.06). | 0.096829396 | 2009 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 23000097 | 1543 | CYP1A1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.103886885 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056948 | 21630024 | 7764 | ZNF217 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.00434307 | 2011 | ZNF217;LOC101927770 | 20 | 53567166 | C | T |
| rs1056948 | 21630024 | 4605 | MYBL2 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.002171535 | 2011 | ZNF217;LOC101927770 | 20 | 53567166 | C | T |
| rs1056948 | 21630024 | 6790 | AURKA | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.038252236 | 2011 | ZNF217;LOC101927770 | 20 | 53567166 | C | T |
| rs1059293 | 23996684 | 3460 | IFNGR2 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | TMEM50B;IFNGR2 | 21 | 33437386 | C | T |
| rs1059293 | 23996684 | 3601 | IL15RA | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | TMEM50B;IFNGR2 | 21 | 33437386 | C | T |
| rs1059293 | 23996684 | 7040 | TGFB1 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.09001189 | 2013 | TMEM50B;IFNGR2 | 21 | 33437386 | C | T |
| rs1059293 | 23996684 | 3566 | IL4R | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.005276948 | 2013 | TMEM50B;IFNGR2 | 21 | 33437386 | C | T |
| rs1061622 | 25010932 | 7132 | TNFRSF1A | umls:C0006142 | BeFree | Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs in TNFRSF1A are associated with the clinical features of breast cancer. | 0.003724241 | 2014 | TNFRSF1B | 1 | 12192898 | T | G |
| rs1061622 | 25010932 | 7133 | TNFRSF1B | umls:C0006142 | BeFree | Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs in TNFRSF1A are associated with the clinical features of breast cancer. | 0.004810009 | 2014 | TNFRSF1B | 1 | 12192898 | T | G |
| rs1061624 | 25010932 | 7132 | TNFRSF1A | umls:C0006142 | BeFree | Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs in TNFRSF1A are associated with the clinical features of breast cancer. | 0.003724241 | 2014 | TNFRSF1B | 1 | 12207208 | A | G |
| rs1061624 | 25010932 | 7133 | TNFRSF1B | umls:C0006142 | BeFree | Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs in TNFRSF1A are associated with the clinical features of breast cancer. | 0.004810009 | 2014 | TNFRSF1B | 1 | 12207208 | A | G |
| rs10719 | 25390939 | 4610 | MYCL | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.005005506 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 25390939 | 374659 | HDDC3 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 25390939 | 841 | CASP8 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.049197125 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 25390939 | 389125 | MUSTN1 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 25390939 | 29102 | DROSHA | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10736303 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | FGFR2 | 10 | 121574943 | G | A |
| rs10736303 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | FGFR2 | 10 | 121574943 | G | A |
| rs10736303 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | FGFR2 | 10 | 121574943 | G | A |
| rs10736303 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | FGFR2 | 10 | 121574943 | G | A |
| rs10754339 | 19903360 | 79679 | VTCN1 | umls:C0006142 | BeFree | We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. | 0.004267125 | 2009 | VTCN1 | 1 | 117147650 | G | A |
| rs10765576 | 22138747 | 4544 | MTNR1B | umls:C0006142 | BeFree | Compared with MTNR1b rs10765576 major allele carriers (GG or GA), a decreased risk of breast cancer was associated with the AA genotype (OR = 0.78, 95% CI = 0.62-0.97, P = 0.0281). | 0.000814326 | 2012 | MTNR1B | 11 | 92973778 | A | G |
| rs10771399 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | NA | 12 | 28002147 | A | G |
| rs10771399 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | NA | 12 | 28002147 | A | G |
| rs10771399 | 22348646 | 2099 | ESR1 | umls:C0006142 | BeFree | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). | 0.24 | 2012 | NA | 12 | 28002147 | A | G |
| rs10787899 | 19377877 | 6241 | RRM2 | umls:C0006142 | BeFree | Two variants in EIF3A (rs10787899 and rs3824830; P < 0.01) and four variants in SART1 (rs660118, rs679581, rs754532, and rs735942; P(trend) < or = 0.02) were significantly associated with an altered risk of breast cancer along with single variants in RRM2, PSCD3, C11orf51, CDC16, SNW1, MFAP1, and CDC2 (P < 0.05). | 0.001628651 | 2010 | EIF3A | 10 | 119039143 | G | A |
| rs1078806 | 18326623 | 138883 | OR1N1 | umls:C0006142 | BeFree | We obtained a significant allele P value of association with AJ breast cancer in the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence interval (CI) 1.13-1.40 at rs1078806 for all phases combined). | 0.000271442 | 2008 | FGFR2 | 10 | 121579461 | A | G |
| rs1078806 | 18326623 | 2263 | FGFR2 | umls:C0006142 | BeFree | We obtained a significant allele P value of association with AJ breast cancer in the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence interval (CI) 1.13-1.40 at rs1078806 for all phases combined). | 0.229599312 | 2008 | FGFR2 | 10 | 121579461 | A | G |
| rs10801935 | 19903360 | 79679 | VTCN1 | umls:C0006142 | BeFree | We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. | 0.004267125 | 2009 | VTCN1 | 1 | 117179265 | C | A,G |
| rs10811474 | 25239644 | 1029 | CDKN2A | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.043366024 | 2015 | NA | 9 | 21114238 | A | G |
| rs10811474 | 25239644 | 1993 | ELAVL2 | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.001357209 | 2015 | NA | 9 | 21114238 | A | G |
| rs10822013 | 21908515 | 22891 | ZNF365 | umls:C0006142 | BeFree | SNP rs10822013 on chromosome 10q21.2, located in the zinc finger protein 365 (ZNF365) gene, showed a consistent association with breast cancer risk in all four stages with a combined per-risk allele odds ratio of 1.10 (95% CI: 1.07-1.14) (P-value for trend = 5.87 × 10(-9)). | 0.122714419 | 2011 | ZNF365 | 10 | 62492218 | C | T |
| rs10822013 | 21908515 | 22891 | ZNF365 | umls:C0006142 | GWASCAT | SNP rs10822013 on chromosome 10q21.2, located in the zinc finger protein 365 (ZNF365) gene, showed a consistent association with breast cancer risk in all four stages with a combined per-risk allele odds ratio of 1.10 (95% CI: 1.07-1.14) (P-value for trend = 5.87 × 10(-9)). | 0.122714419 | 2011 | ZNF365 | 10 | 62492218 | C | T |
| rs10889677 | 23042301 | 149233 | IL23R | umls:C0006142 | BeFree | We found that the C allele of the rs10889677A>C polymorphism in the 3'-untranslated region of IL-23R was inversely associated with risk of multiple types of cancer, including breast cancer, lung cancer and nasopharyngeal carcinoma. | 0.000542884 | 2012 | IL23R | 1 | 67259437 | C | A |
| rs10891556 | 20180013 | 1813 | DRD2 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.005276948 | 2010 | NA | 11 | 113482039 | G | T |
| rs10891556 | 20180013 | 1814 | DRD3 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.002638474 | 2010 | NA | 11 | 113482039 | G | T |
| rs10891556 | 20180013 | 6532 | SLC6A4 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.003724241 | 2010 | NA | 11 | 113482039 | G | T |
| rs10902845 | 21828234 | 80007 | C10orf88 | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | NA | 10 | 122923791 | T | C |
| rs10902845 | 21828234 | 36 | ACADSB | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | NA | 10 | 122923791 | T | C |
| rs1092913 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | ROPN1L | 5 | 10467590 | G | A |
| rs1092913 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | ROPN1L | 5 | 10467590 | G | A |
| rs1092913 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | ROPN1L | 5 | 10467590 | G | A |
| rs1092913 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | ROPN1L | 5 | 10467590 | G | A |
| rs10941235 | 21125332 | 5618 | PRLR | umls:C0006142 | BeFree | These findings suggest that the polymorphism rs10941235 in the PRLR gene is associated with breast cancer and cancer antigen 15-3 levels in Taiwanese women. | 0.020054361 | 2011 | PRLR | 5 | 35185478 | C | T |
| rs10941235 | 21125332 | 4582 | MUC1 | umls:C0006142 | BeFree | These findings suggest that the polymorphism rs10941235 in the PRLR gene is associated with breast cancer and cancer antigen 15-3 levels in Taiwanese women. | 0.039207182 | 2011 | PRLR | 5 | 35185478 | C | T |
| rs10941679 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | NA | 5 | 44706396 | A | G |
| rs10941679 | 23221726 | 10884 | MRPS30 | umls:C0006142 | BeFree | The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated with breast cancer risk only among women with more than 30 years of menstruation (odds ratio = 1.15, 95% confidence interval: 1.05, 1.26). | 0.003724241 | 2013 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | NA | 5 | 44706396 | A | G |
| rs10941679 | 19232126 | 10884 | MRPS30 | umls:C0006142 | BeFree | The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent dense area; women who were homozygous for the G allele (previously associated with increased breast cancer risk) had 4% to 5% lower densities than women with at least one A allele. | 0.003724241 | 2009 | NA | 5 | 44706396 | A | G |
| rs10941679 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | NA | 5 | 44706396 | A | G |
| rs10941679 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | NA | 5 | 44706396 | A | G |
| rs10941679 | 20095854 | 10884 | MRPS30 | umls:C0006142 | BeFree | In exploratory analyses, we found that the radiation-associated breast cancer risk varied significantly by linked markers in 5p12 (rs930395, rs10941679, rs2067980 and rs4415084) in the mitochondrial ribosomal protein S30 (MRPS30) gene (P(interaction) = 0.04). | 0.003724241 | 2010 | NA | 5 | 44706396 | A | G |
| rs10941679 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | NA | 5 | 44706396 | A | G |
| rs10941679 | 21791674 | 5241 | PGR | umls:C0006142 | BeFree | SNP 5p12-rs10941679 was statistically significantly associated with greater risk of progesterone receptor-positive than progesterone receptor-negative breast cancer (P(heterogeneity) = .0028). | 0.132074704 | 2011 | NA | 5 | 44706396 | A | G |
| rs10941679 | 19232126 | 348980 | HCN1 | umls:C0006142 | BeFree | The polymorphism rs10941679 near HCN1/MRPS30 was also associated with percent dense area; women who were homozygous for the G allele (previously associated with increased breast cancer risk) had 4% to 5% lower densities than women with at least one A allele. | 0.005005506 | 2009 | NA | 5 | 44706396 | A | G |
| rs10941679 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | NA | 5 | 44706396 | A | G |
| rs10995190 | 22348646 | 2099 | ESR1 | umls:C0006142 | BeFree | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). | 0.24 | 2012 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 25012995 | 22891 | ZNF365 | umls:C0006142 | BeFree | Associations were also observed with rs10995190 in the ZNF365 gene (P < 1.0 × 10(-6)) and breast cancer risk [HR for the highest vs. lowest quartile, 2.93; 95% confidence interval, 1.73-4.96 and 1.63 (1.10-2.42) for percent and absolute dense volume, respectively]. | 0.122714419 | 2015 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 23535729 | 22891 | ZNF365 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.122714419 | 2013 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 25329322 | 22891 | ZNF365 | umls:C0006142 | BeFree | We contrast the three methods, CASAM-Area, CASAM-Vol and Volpara directly and in terms of association with breast cancer risk and a known genetic variant for mammographic density and breast cancer, rs10995190 in the gene ZNF365. | 0.122714419 | 2014 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 23535733 | 22891 | ZNF365 | umls:C0006142 | GWASCAT | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. | 0.122714419 | 2013 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | ZNF365 | 10 | 62518923 | G | A |
| rs10995190 | 20453838 | 22891 | ZNF365 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.122714419 | 2010 | ZNF365 | 10 | 62518923 | G | A |
| rs11055786 | 25223935 | 388112 | NANOGP8 | umls:C0006142 | BeFree | On MDR analysis, we found combination of SNPs SOX2 rs11915160, OCT4 rs3130932, and NANOG rs11055786 to be the best interaction model for predicting breast cancer risk [p for permutation test <10(-3), OR = 2.04 (1.43-2.910] and response to NACT [p for permutation test = 0.005, OR = 2.09 (1.24-3.52)]. | 0.001085767 | 2014 | NANOG | 12 | 7792788 | T | C |
| rs11075995 | 23535733 | 79068 | FTO | umls:C0006142 | GWASCAT | SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). | 0.121900093 | 2013 | FTO | 16 | 53821379 | A | T |
| rs11075995 | 25007960 | 2064 | ERBB2 | umls:C0006142 | BeFree | Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overexpression in breast cancer (P = 1.09 × 10(-3)) and rs11075995 (16q12.2/FTO) with basal-like breast cancer (P = 1.64 × 10(-4)) were statistically significant. | 0.24 | 2014 | FTO | 16 | 53821379 | A | T |
| rs11082321 | 25038754 | 91768 | CABLES1 | umls:C0006142 | GWASCAT | Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. | 0.12 | 2014 | CABLES1 | 18 | 23196687 | G | A |
| rs1109324 | 22315135 | 2258 | FGF13 | umls:C0006142 | BeFree | Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109324, rs154765 and rs833052, one polymorphism at the promoter of the VEGFR1 (-710 C/T) and another in the FGF2, rs1449683, gene to explore their association with BC susceptibility. | 0.002442977 | 2012 | NA | 6 | 43762018 | G | T |
| rs11113179 | 23725643 | 406 | ARNTL | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.001628651 | 2013 | CRY1 | 12 | 107059007 | C | T |
| rs11113179 | 23725643 | 5187 | PER1 | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.004810009 | 2013 | CRY1 | 12 | 107059007 | C | T |
| rs11113179 | 23725643 | 1407 | CRY1 | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.000542884 | 2013 | CRY1 | 12 | 107059007 | C | T |
| rs11200014 | 22965832 | 2099 | ESR1 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.24 | 2012 | FGFR2 | 10 | 121575416 | G | A |
| rs11200014 | 22965832 | 2263 | FGFR2 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.229599312 | 2012 | FGFR2 | 10 | 121575416 | G | A |
| rs11203200 | 25029565 | 3082 | HGF | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.091053172 | 2014 | TMPRSS3 | 21 | 42394466 | G | A |
| rs11203200 | 25029565 | 56649 | TMPRSS4 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000814326 | 2014 | TMPRSS3 | 21 | 42394466 | G | A |
| rs11203200 | 25029565 | 344805 | TMPRSS7 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000271442 | 2014 | TMPRSS3 | 21 | 42394466 | G | A |
| rs11249433 | 23535729 | 647121 | EMBP1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 24292867 | 2210 | FCGR1B | umls:C0006142 | BeFree | Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH2 and FCGR1B genes within the 1p11.2 locus, is more strongly associated with risk of breast tumors with low or absent E-cadherin expression, and suggest that evaluation of E-cadherin tumor tissue expression may be useful in clarifying breast cancer risk factor associations. | 0.002638474 | 2013 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 23977306 | 2099 | ESR1 | umls:C0006142 | BeFree | In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility and confer its effect primarily in estrogen receptor-positive and progesterone receptor-positive tumors. | 0.24 | 2013 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 19330030 | 647121 | EMBP1 | umls:C0006142 | GWASCAT | A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). | 0.12 | 2009 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 20482849 | 4853 | NOTCH2 | umls:C0006142 | BeFree | NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations. | 0.004267125 | 2010 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 23977306 | 5241 | PGR | umls:C0006142 | BeFree | In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility and confer its effect primarily in estrogen receptor-positive and progesterone receptor-positive tumors. | 0.132074704 | 2013 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 24292867 | 4853 | NOTCH2 | umls:C0006142 | BeFree | Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH2 and FCGR1B genes within the 1p11.2 locus, is more strongly associated with risk of breast tumors with low or absent E-cadherin expression, and suggest that evaluation of E-cadherin tumor tissue expression may be useful in clarifying breast cancer risk factor associations. | 0.004267125 | 2013 | EMBP1 | 1 | 121538815 | A | G |
| rs11249433 | 20482849 | 2099 | ESR1 | umls:C0006142 | BeFree | A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) rs11249433 in the 1p11.2 region as a novel genetic risk factor for breast cancer, and this association was stronger in patients with estrogen receptor (ER)+ versus ER- cancer. | 0.24 | 2010 | EMBP1 | 1 | 121538815 | A | G |
| rs1126497 | 20683652 | 4072 | EPCAM | umls:C0006142 | BeFree | A non-synonymous polymorphism Thr115Met in the EpCAM gene is associated with an increased risk of breast cancer in Chinese population. | 0.009500466 | 2011 | EPCAM | 2 | 47373967 | T | C |
| rs1130409 | 18669164 | 328 | APEX1 | umls:C0006142 | BeFree | The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved in contributing towards breast cancer susceptibility, while rs1799782 (XRCC1) might have protective influence. | 0.018816704 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 23755158 | 4193 | MDM2 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.05931642 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24893568 | 328 | APEX1 | umls:C0006142 | BeFree | Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-analysis. | 0.018816704 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 23755158 | 4292 | MLH1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.022345448 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24893568 | 4968 | OGG1 | umls:C0006142 | BeFree | Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-analysis. | 0.026189242 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24076439 | 4968 | OGG1 | umls:C0006142 | BeFree | Moreover, the combination of the C-C haplotype of OGG1 with the APEX1 Asp148Glu genotype was also associated with an additive risk effect of BC [ORs=2.44, 2.87, and 3.50, respectively]. | 0.026189242 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 23755158 | 26015 | RPAP1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.000271442 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 15113441 | 675 | BRCA2 | umls:C0006142 | BeFree | Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. | 0.48 | 2004 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18669164 | 7515 | XRCC1 | umls:C0006142 | BeFree | The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved in contributing towards breast cancer susceptibility, while rs1799782 (XRCC1) might have protective influence. | 0.098186605 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24076439 | 328 | APEX1 | umls:C0006142 | BeFree | The combined effect of APEX1 Asp148Glu was found to be associated with an increased risk of BC. | 0.018816704 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 23755158 | 328 | APEX1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.018816704 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 15113441 | 328 | APEX1 | umls:C0006142 | BeFree | Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. | 0.018816704 | 2004 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24414702 | 328 | APEX1 | umls:C0006142 | BeFree | The association between the APE1 Asp148Glu polymorphism and breast cancer susceptibility: a meta-analysis based on case-control studies. | 0.018816704 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs113488022 | 22845480 | 25 | ABL1 | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.006634157 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 238 | ALK | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001628651 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 5914 | RARA | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.009229024 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 5371 | PML | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001357209 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 3845 | KRAS | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.007795869 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 1956 | EGFR | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.10367032 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 2064 | ERBB2 | umls:C0006142 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.24 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1136201 | 18062925 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. | 0.24 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 16416013 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-control study in Slovakia. | 0.24 | 2006 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 18058229 | 2950 | GSTP1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.099000931 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 23594562 | 1956 | EGFR | umls:C0006142 | BeFree | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | 0.10367032 | 2013 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 18058229 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.24 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 15970791 | 2064 | ERBB2 | umls:C0006142 | BeFree | The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. | 0.24 | 2005 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 23086302 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | 0.24 | 2013 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 17687647 | 472 | ATM | umls:C0006142 | BeFree | A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembrane domain-coding region of human ERBB2 gene has been previously evaluated for its association with breast cancer risk with mixed results. | 0.127502328 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 18837888 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER-2/neu Ile655Val polymorphism and the risk of breast cancer. | 0.24 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 24608202 | 2064 | ERBB2 | umls:C0006142 | BeFree | Association between the HER2 Ile655Val polymorphism and response to trastuzumab in women with operable primary breast cancer. | 0.24 | 2015 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 17452776 | 2064 | ERBB2 | umls:C0006142 | BeFree | One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. | 0.24 | 2007 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 20401632 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies. | 0.24 | 2010 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 18058229 | 2944 | GSTM1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.101986792 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 14569185 | 672 | BRCA1 | umls:C0006142 | BeFree | Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mutation carriers, although these results are based on small numbers. | 0.36 | 2003 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 21474413 | 2064 | ERBB2 | umls:C0006142 | BeFree | Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a systematic review and meta-analysis. | 0.24 | 2011 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 23086302 | 5728 | PTEN | umls:C0006142 | BeFree | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | 0.050651348 | 2013 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 15374636 | 2064 | ERBB2 | umls:C0006142 | BeFree | Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women. | 0.24 | 2004 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 14569185 | 2064 | ERBB2 | umls:C0006142 | BeFree | The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. | 0.24 | 2003 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 18058229 | 2952 | GSTT1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.09601507 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 18090908 | 2064 | ERBB2 | umls:C0006142 | BeFree | Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial growth factor receptor 2 (HER-2) gene and susceptibility to breast cancer have been reported for almost all ethnic populations, with both positive or negative conclusions. | 0.24 | 2008 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 23594562 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | 0.24 | 2013 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 11857355 | 2064 | ERBB2 | umls:C0006142 | BeFree | Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 and susceptibility to breast cancer. | 0.24 | 2002 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136201 | 14578152 | 2064 | ERBB2 | umls:C0006142 | BeFree | The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years. | 0.24 | 2003 | ERBB2 | 17 | 39723335 | A | G,T |
| rs1136410 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 24392019 | 142 | PARP1 | umls:C0006142 | BeFree | Association between PARP-1 V762A polymorphism and breast cancer susceptibility in Saudi population. | 0.027339684 | 2013 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | PARP1 | 1 | 226367601 | A | G |
| rs1137100 | 25261678 | 54741 | LEPROT | umls:C0006142 | BeFree | These findings suggested that the LEPR K109R(rs1137100) genetic polymorphism may decrease the susceptibility in breast cancer, especially in the additive genetic model. | 0.002171535 | 2014 | LEPR | 1 | 65570758 | A | G |
| rs1137101 | 18668212 | 335 | APOA1 | umls:C0006142 | BeFree | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, APOA1, WHR, and reduced APOB should play a major role in the development of breast cancer. | 0.001357209 | 2008 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 18668212 | 3630 | INS | umls:C0006142 | BeFree | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, APOA1, WHR, and reduced APOB should play a major role in the development of breast cancer. | 0.046612057 | 2008 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 18668212 | 338 | APOB | umls:C0006142 | BeFree | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, APOA1, WHR, and reduced APOB should play a major role in the development of breast cancer. | 0.000542884 | 2008 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 19017403 | 3953 | LEPR | umls:C0006142 | BeFree | Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women: a case control study. | 0.024169596 | 2008 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 25863476 | 3953 | LEPR | umls:C0006142 | BeFree | The association between LEPR Q223R polymorphisms and breast cancer risk. | 0.024169596 | 2015 | LEPR | 1 | 65592830 | A | G |
| rs11523871 | 19830809 | 672 | BRCA1 | umls:C0006142 | BeFree | Here, we report the association of two frequent and linked single-nucleotide polymorphisms (SNPs) with increased breast cancer risk in women above the age of 60 years: DMBT1 c.-93C>T, rs2981745, located in the DMBT1 promoter; and DMBT1 c.124A>C, p.Thr42Pro, rs11523871(odds ratio [OR]=1.66, 95% confidence interval [CI]=1.21-2.29, P=0.0017; and OR=1.66; 95% CI=1.21-2.28, P=0.0016, respectively), based on 1,195 BRCA1/2 mutation-negative German breast cancer families and 1,466 unrelated German controls. | 0.36 | 2010 | DMBT1 | 10 | 122570194 | C | A |
| rs11540654 | 17387621 | 7157 | TP53 | umls:C0006142 | BeFree | The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. | 0.24 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 16033823 | 7157 | TP53 | umls:C0006142 | BeFree | The p53 R72P polymorphism has been suggested to play a role in many cancers, including breast cancer. | 0.24 | 2005 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17696741 | 2950 | GSTP1 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.099000931 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21479369 | 7157 | TP53 | umls:C0006142 | BeFree | Involvement of p53 R72P polymorphism in the association of MDM2-SNP309 with breast cancer. | 0.24 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 14634508 | 7157 | TP53 | umls:C0006142 | BeFree | Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. | 0.24 | 2003 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23716179 | 7157 | TP53 | umls:C0006142 | BeFree | Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. | 0.24 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21667122 | 4193 | MDM2 | umls:C0006142 | BeFree | Association of the germline TP53 R72P and MDM2 SNP309 variants with breast cancer survival in specific breast tumor subgroups. | 0.05931642 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21365326 | 7157 | TP53 | umls:C0006142 | BeFree | The TP53 gene polymorphisms, Arg72Pro and PIN3 (+16 bp), can have prognostic and predictive value in different cancers including breast cancer. | 0.24 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21833626 | 4193 | MDM2 | umls:C0006142 | BeFree | Combined effects of MDM2 SNP309 and TP53 R72P polymorphisms, and soy isoflavones on breast cancer risk among Chinese women in Singapore. | 0.05931642 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17387621 | 4193 | MDM2 | umls:C0006142 | BeFree | The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. | 0.05931642 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 15183535 | 7157 | TP53 | umls:C0006142 | BeFree | Association of p53 genetic polymorphism (Arg72Pro) with estrogen receptor positive breast cancer risk in Japanese women. | 0.24 | 2004 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 25169539 | 7157 | TP53 | umls:C0006142 | BeFree | The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians. | 0.24 | 2015 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17696741 | 7157 | TP53 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.24 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 19639206 | 7157 | TP53 | umls:C0006142 | BeFree | The significance of MDM2 SNP309 and p53 Arg72Pro in young women with breast cancer. | 0.24 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18058229 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.24 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18781154 | 672 | BRCA1 | umls:C0006142 | BeFree | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. | 0.36 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17909070 | 7157 | TP53 | umls:C0006142 | BeFree | Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. | 0.24 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20021639 | 4193 | MDM2 | umls:C0006142 | BeFree | We pooled data from four breast cancer cohorts within the Breast Cancer Association Consortium for which both TP53 R72P and MDM2 SNP309 were genotyped and follow-up was available (n = 3,749). | 0.05931642 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23716179 | 2321 | FLT1 | umls:C0006142 | BeFree | Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. | 0.004885954 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18058229 | 2944 | GSTM1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.101986792 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 15138483 | 7157 | TP53 | umls:C0006142 | BeFree | Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. | 0.24 | 2004 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 14634508 | 7161 | TP73 | umls:C0006142 | BeFree | Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. | 0.010705785 | 2003 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18058229 | 2952 | GSTT1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.09601507 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21706156 | 7157 | TP53 | umls:C0006142 | BeFree | MDM2 SNP309 and TP53 R72P associated with severe and febrile neutropenia in breast cancer patients treated with 5-FU/epirubicin/cyclophosphamide. | 0.24 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18058229 | 2950 | GSTP1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.099000931 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18781154 | 7157 | TP53 | umls:C0006142 | BeFree | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. | 0.24 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23793604 | 7157 | TP53 | umls:C0006142 | BeFree | Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, contributes to breast cancer susceptibility. | 0.24 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21833626 | 7157 | TP53 | umls:C0006142 | BeFree | Combined effects of MDM2 SNP309 and TP53 R72P polymorphisms, and soy isoflavones on breast cancer risk among Chinese women in Singapore. | 0.24 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 24114315 | 5888 | RAD51 | umls:C0006142 | BeFree | RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. | 0.215831722 | 2015 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21667122 | 7157 | TP53 | umls:C0006142 | BeFree | Association of the germline TP53 R72P and MDM2 SNP309 variants with breast cancer survival in specific breast tumor subgroups. | 0.24 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18781154 | 675 | BRCA2 | umls:C0006142 | BeFree | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. | 0.48 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 25854391 | 7157 | TP53 | umls:C0006142 | BeFree | Lack of influence of TP53 Arg72Pro and 16bp duplication polymorphisms on risk of breast cancer in Iran. | 0.24 | 2015 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21479369 | 4193 | MDM2 | umls:C0006142 | BeFree | Involvement of p53 R72P polymorphism in the association of MDM2-SNP309 with breast cancer. | 0.05931642 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 24114315 | 7157 | TP53 | umls:C0006142 | BeFree | RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. | 0.24 | 2015 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17696741 | 2944 | GSTM1 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.101986792 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 19639206 | 4193 | MDM2 | umls:C0006142 | BeFree | The significance of MDM2 SNP309 and p53 Arg72Pro in young women with breast cancer. | 0.05931642 | 2009 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 14634508 | 83478 | ARHGAP24 | umls:C0006142 | BeFree | Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. | 0.005157396 | 2003 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20233677 | 7157 | TP53 | umls:C0006142 | BeFree | The present study was undertaken to investigate the association of p53 Arg72Pro, Ins16bp and G13964C polymorphisms and their haplotypes with breast cancer risk in Tunisian women. | 0.24 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22729912 | 4193 | MDM2 | umls:C0006142 | BeFree | Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis. | 0.05931642 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 16314399 | 5241 | PGR | umls:C0006142 | BeFree | These findings indicate that the SNPs in P53BP1 and p53 jointly contribute to breast cancer risk, particularly ER (-) or PR (-) breast cancer, and the p53 Arg72Pro polymorphism may serve as a risk modifier. | 0.132074704 | 2006 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 15183535 | 2099 | ESR1 | umls:C0006142 | BeFree | Association of p53 genetic polymorphism (Arg72Pro) with estrogen receptor positive breast cancer risk in Japanese women. | 0.24 | 2004 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 16314399 | 2099 | ESR1 | umls:C0006142 | BeFree | These findings indicate that the SNPs in P53BP1 and p53 jointly contribute to breast cancer risk, particularly ER (-) or PR (-) breast cancer, and the p53 Arg72Pro polymorphism may serve as a risk modifier. | 0.24 | 2006 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18058229 | 7157 | TP53 | umls:C0006142 | BeFree | TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian women and TGFbeta1 Pro (Leu10Pro) allele predicts response to neo-adjuvant chemo-radiotherapy. | 0.24 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17909070 | 4193 | MDM2 | umls:C0006142 | BeFree | Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. | 0.05931642 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22729912 | 7157 | TP53 | umls:C0006142 | BeFree | Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis. | 0.24 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23793604 | 4194 | MDM4 | umls:C0006142 | BeFree | Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, contributes to breast cancer susceptibility. | 0.133148762 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11552449 | 23535729 | 10717 | AP4B1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.120271442 | 2013 | AP4B1;DCLRE1B | 1 | 113905767 | C | G,T |
| rs11552449 | 23535729 | 64858 | DCLRE1B | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | AP4B1;DCLRE1B | 1 | 113905767 | C | G,T |
| rs11571707 | 19851859 | 675 | BRCA2 | umls:C0006142 | BeFree | A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history. | 0.48 | 2010 | BRCA2 | 13 | 32356461 | T | C |
| rs11571833 | 25838448 | 675 | BRCA2 | umls:C0006142 | BeFree | A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. | 0.48 | 2015 | BRCA2 | 13 | 32398489 | A | T |
| rs11571833 | 23535729 | 675 | BRCA2 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.48 | 2013 | BRCA2 | 13 | 32398489 | A | T |
| rs11614913 | 22074121 | 407018 | MIR27A | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.003995683 | 2012 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 19847796 | 406938 | MIR146A | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.008262808 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 18634034 | 574501 | MIR499A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.004538567 | 2009 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 22074121 | 406941 | MIR149 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.001357209 | 2012 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 23982873 | 693190 | MIR605 | umls:C0006142 | BeFree | In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913*T, miR-499 rs3746444*T, miR-605 rs2043556*A, and miR-27a rs895919*C alleles might be protective factors for breast cancer. | 0.000542884 | 2013 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 24521023 | 5018 | OXA1L | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.003257302 | 2014 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 18634034 | 406938 | MIR146A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.008262808 | 2009 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 18634034 | 5018 | OXA1L | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.003257302 | 2009 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 24521023 | 406938 | MIR146A | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.008262808 | 2014 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 21625865 | 5018 | OXA1L | umls:C0006142 | BeFree | Taken together, our results indicate that the polymorphism of hsa-miR-196a2 rs11614913 is associated with cancer susceptibility, especially with breast cancer and in Chinese and Indian populations. | 0.003257302 | 2012 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 22074121 | 693190 | MIR605 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.000542884 | 2012 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 19567675 | 406973 | MIR196A2 | umls:C0006142 | BeFree | We first performed a genetic association analysis by screening genetic variants in 15 miRNA genes and detected that a common sequence variant in hsa-miR-196a-2 (rs11614913, C-->T) was significantly associated with decreased breast cancer risk (for homozygous variant: odds ratio, 0.44; 95% confidence interval, 0.28-0.70). | 0.003181358 | 2009 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 19847796 | 574501 | MIR499A | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.004538567 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 23228090 | 5018 | OXA1L | umls:C0006142 | BeFree | Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer. | 0.003257302 | 2012 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 20640596 | 5018 | OXA1L | umls:C0006142 | BeFree | hsa-miR-146 rs2910164 and hsa-miR-196a2 rs11614913) with breast cancer. | 0.003257302 | 2011 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 19847796 | 5018 | OXA1L | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.003257302 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11615 | 24582975 | 2067 | ERCC1 | umls:C0006142 | BeFree | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs17655 G allele had a greatly increased risk of breast cancer. | 0.017806881 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24933103 | 2067 | ERCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.017806881 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24582975 | 2073 | ERCC5 | umls:C0006142 | BeFree | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs17655 G allele had a greatly increased risk of breast cancer. | 0.018740759 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24933103 | 7515 | XRCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.098186605 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24933103 | 2068 | ERCC2 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.083616838 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24933103 | 7517 | XRCC3 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.084507108 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24933103 | 672 | BRCA1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.36 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24933103 | 5243 | ABCB1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.096710723 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11655505 | 20413709 | 672 | BRCA1 | umls:C0006142 | BeFree | A BRCA1 promoter variant (rs11655505) and breast cancer risk. | 0.36 | 2010 | BRCA1;NBR2 | 17 | 43126360 | G | A |
| rs11662595 | 23481304 | 10194 | TSHZ1 | umls:C0006142 | BeFree | Further haplotype analysis showed that the CAA haplotype of rs623590-rs11662595-rs1421125 was more frequent among patients with breast cancer (adjusted OR, 1.856; 95% CI, 1.236-2.787; P=0.003). | 0.001085767 | 2013 | HRH4 | 18 | 24477006 | A | G |
| rs11878583 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | ZNF577 | 19 | 51885293 | A | G |
| rs11915160 | 25223935 | 388112 | NANOGP8 | umls:C0006142 | BeFree | On MDR analysis, we found combination of SNPs SOX2 rs11915160, OCT4 rs3130932, and NANOG rs11055786 to be the best interaction model for predicting breast cancer risk [p for permutation test <10(-3), OR = 2.04 (1.43-2.910] and response to NACT [p for permutation test = 0.005, OR = 2.09 (1.24-3.52)]. | 0.001085767 | 2014 | SOX2;SOX2-OT | 3 | 181713783 | C | A |
| rs1205 | 23991131 | 7124 | TNF | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.070293647 | 2013 | CRP | 1 | 159712443 | C | T |
| rs1205 | 23991131 | 6374 | CXCL5 | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.000814326 | 2013 | CRP | 1 | 159712443 | C | T |
| rs1205 | 23991131 | 140913 | PPIAP10 | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.000542884 | 2013 | CRP | 1 | 159712443 | C | T |
| rs121434569 | 23407556 | 3670 | ISL1 | umls:C0006142 | BeFree | We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. | 0.000271442 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 23407556 | 1956 | EGFR | umls:C0006142 | BeFree | We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. | 0.10367032 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 23407556 | 672 | BRCA1 | umls:C0006142 | BeFree | We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. | 0.36 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 23407556 | 8048 | CSRP3 | umls:C0006142 | BeFree | We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. | 0.003800186 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 23407556 | 8543 | LMO4 | umls:C0006142 | BeFree | We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. | 0.006167218 | 2013 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434592 | 17611497 | 207 | AKT1 | umls:C0006142 | UNIPROT | A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. | 0.15040149 | 2007 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 18392055 | 207 | AKT1 | umls:C0006142 | BeFree | This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. | 0.15040149 | 2008 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 23888070 | 207 | AKT1 | umls:C0006142 | BeFree | AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. | 0.15040149 | 2014 | AKT1 | 14 | 104780214 | C | T |
| rs121912664 | 19046423 | 7157 | TP53 | umls:C0006142 | BeFree | Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. | 0.24 | 2008 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 18248785 | 7157 | TP53 | umls:C0006142 | BeFree | Here we have assessed the prevalence of R337H in 750 healthy women participating in a community-based breast cancer screening program in the area of Porto Alegre. | 0.24 | 2008 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 24936644 | 7157 | TP53 | umls:C0006142 | BeFree | Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. | 0.24 | 2014 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 25052705 | 7157 | TP53 | umls:C0006142 | BeFree | The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer. | 0.24 | 2015 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121913273 | 25027743 | 2064 | ERBB2 | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.24 | 2014 | PIK3CA | 3 | 179218294 | G | A |
| rs121913273 | 25027743 | 1956 | EGFR | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.10367032 | 2014 | PIK3CA | 3 | 179218294 | G | A |
| rs121913273 | 25027743 | 5728 | PTEN | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.050651348 | 2014 | PIK3CA | 3 | 179218294 | G | A |
| rs121913279 | 22370636 | 5290 | PIK3CA | umls:C0006142 | BeFree | In this study, we report the development of a knock-in mouse model for breast cancer where the endogenous Pik3ca allele was modified to allow tissue-specific conditional expression of a frequently found Pik3ca(H1047R) (Pik3ca(e20H1047R)) mutant allele. | 0.30437577 | 2013 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 25027743 | 1956 | EGFR | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.10367032 | 2014 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 25027743 | 2064 | ERBB2 | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.24 | 2014 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 26266975 | 5290 | PIK3CA | umls:C0006142 | BeFree | Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the potential of PIK3CA(H1047R), one of the most frequent mutations occurring in human breast cancer, to induce multipotency during tumorigenesis in the mammary gland. | 0.30437577 | 2015 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 21822287 | 5290 | PIK3CA | umls:C0006142 | BeFree | To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of breast cancer conditionally expressing human PIK3CA(H1047R). | 0.30437577 | 2011 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 22315990 | 5290 | PIK3CA | umls:C0006142 | BeFree | Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer. | 0.30437577 | 2012 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 25027743 | 5728 | PTEN | umls:C0006142 | BeFree | This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. | 0.050651348 | 2014 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913279 | 23633485 | 2065 | ERBB3 | umls:C0006142 | BeFree | Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in human breast cancer cells harboring PIK3CA(H1047R). | 0.018458047 | 2013 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913500 | 23111200 | 3417 | IDH1 | umls:C0006142 | BeFree | The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not been previously reported in breast carcinoma. | 0.000542884 | 2012 | IDH1 | 2 | 208248388 | C | T |
| rs121917739 | 17666788 | 5888 | RAD51 | umls:C0006142 | BeFree | These differences in the DNA-binding properties between HsRad51(R150Q) and HsRad51 may be important to account for the tumorigenesis in breast cancer patients with the HsRad51(R150Q) mutation. | 0.215831722 | 2007 | RAD51 | 15 | 40718818 | G | A |
| rs121917739 | 10807537 | 5888 | RAD51 | umls:C0006142 | UNIPROT | Identification of Rad51 alteration in patients with bilateral breast cancer. | 0.215831722 | 2000 | RAD51 | 15 | 40718818 | G | A |
| rs1219648 | 19789366 | 2263 | FGFR2 | umls:C0006142 | BeFree | Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk. | 0.229599312 | 2009 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 19028704 | 5241 | PGR | umls:C0006142 | BeFree | FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. | 0.132074704 | 2009 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 20872241 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | A combined analysis of genome-wide association studies in breast cancer. | 0.229599312 | 2011 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23225170 | 672 | BRCA1 | umls:C0006142 | BeFree | In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; and MAP3K1 rs889312, with BC risk in 351 BRCA1/2-negative Chilean BC cases and 802 controls. | 0.36 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23435034 | 2263 | FGFR2 | umls:C0006142 | BeFree | Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and postmenopausal hormone therapy use in a population-based United States study. | 0.229599312 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 17529973 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. | 0.229599312 | 2007 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 19028704 | 2064 | ERBB2 | umls:C0006142 | BeFree | FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. | 0.24 | 2009 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 21475998 | 4214 | MAP3K1 | umls:C0006142 | BeFree | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to replicate in the 4-Corner's Breast Cancer Study of Hispanic (N = 565 cases and 714 controls) and non-Hispanic white (NHW) women (N = 1177 cases and 1330 controls). | 0.166482707 | 2011 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 22965832 | 2099 | ESR1 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.24 | 2012 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 22965832 | 2263 | FGFR2 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.229599312 | 2012 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 20640597 | 2263 | FGFR2 | umls:C0006142 | BeFree | Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. | 0.229599312 | 2011 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 21263130 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | A variant mapping to 10q26.13, approximately 300 kb telomeric to the established risk locus within the second intron of FGFR2, was also associated with breast cancer risk, although not at genome-wide statistical significance (rs10510102: OR = 1.12, 95% CI = 1.07 to 1.17, P = 1.58 × 10(-6)). | 0.229599312 | 2011 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 19028704 | 2099 | ESR1 | umls:C0006142 | BeFree | FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. | 0.24 | 2009 | FGFR2 | 10 | 121586676 | A | G |
| rs1219648 | 20640597 | 7040 | TGFB1 | umls:C0006142 | BeFree | Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. | 0.09001189 | 2011 | FGFR2 | 10 | 121586676 | A | G |
| rs12255372 | 21301999 | 6934 | TCF7L2 | umls:C0006142 | BeFree | Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association of TCF7L2 rs12255372(G/T) or rs7903146(C/T) with breast cancer risk and clinico-pathological parameters. | 0.126710102 | 2012 | TCF7L2 | 10 | 113049143 | G | T |
| rs12255372 | 24266846 | 6934 | TCF7L2 | umls:C0006142 | BeFree | Studies on the association between the TCF7L2 rs12255372 polymorphism and breast cancer risk have reported conflicting results. | 0.126710102 | 2014 | TCF7L2 | 10 | 113049143 | G | T |
| rs1231202 | 17764108 | 5591 | PRKDC | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.011639663 | 2008 | PRKDC | 8 | 47933959 | T | C |
| rs1231202 | 17764108 | 672 | BRCA1 | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.36 | 2008 | PRKDC | 8 | 47933959 | T | C |
| rs1231202 | 17764108 | 7486 | WRN | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.010553895 | 2008 | PRKDC | 8 | 47933959 | T | C |
| rs12325489 | 24879036 | 283854 | CASC22 | umls:C0006142 | BeFree | A polymorphism rs12325489C>T in the lincRNA-ENST00000515084 exon was found to modulate breast cancer risk via GWAS-based association analyses. | 0.000271442 | 2014 | CASC22 | 16 | 52273164 | C | T |
| rs12325817 | 18230680 | 55349 | CHDH | umls:C0006142 | BeFree | Two putatively functional single nucleotide polymorphisms of choline-metabolizing genes, PEMT -774G>C (rs12325817) and CHDH +432G>T (rs12676), were also found be related to breast cancer risk. | 0.003181358 | 2008 | PEMT | 17 | 17583205 | C | G |
| rs12355840 | 25169894 | 574448 | MIR202 | umls:C0006142 | BeFree | Notably, hsa-mir-202, a potential breast cancer biomarker, was found to show significantly high allele frequency differentiation at SNP rs12355840, which is known to affect miRNA expression levels in vivo and subsequently breast cancer mortality. | 0.000814326 | 2014 | MIR202;MIR202HG | 10 | 133247608 | C | G,T |
| rs12443621 | 19232126 | 27324 | TOX3 | umls:C0006142 | BeFree | The association with rs12443621 may provide clues as to how variation in TOX3 influences breast cancer risk. | 0.170011451 | 2009 | TOX3 | 16 | 52514125 | A | G |
| rs12443621 | 22867275 | 4046 | LSP1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.161672698 | 2012 | TOX3 | 16 | 52514125 | A | G |
| rs12443621 | 22867275 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.166482707 | 2012 | TOX3 | 16 | 52514125 | A | G |
| rs12443621 | 22867275 | 27324 | TOX3 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.170011451 | 2012 | TOX3 | 16 | 52514125 | A | G |
| rs12443621 | 22867275 | 2263 | FGFR2 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.229599312 | 2012 | TOX3 | 16 | 52514125 | A | G |
| rs12493607 | 23535729 | 7048 | TGFBR2 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.126167218 | 2013 | TGFBR2 | 3 | 30641447 | G | C |
| rs12493607 | 25007960 | 2064 | ERBB2 | umls:C0006142 | BeFree | Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overexpression in breast cancer (P = 1.09 × 10(-3)) and rs11075995 (16q12.2/FTO) with basal-like breast cancer (P = 1.64 × 10(-4)) were statistically significant. | 0.24 | 2014 | TGFBR2 | 3 | 30641447 | G | C |
| rs12516 | 25339023 | 672 | BRCA1 | umls:C0006142 | BeFree | SNP c.*1287C>T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population. | 0.36 | 2015 | BRCA1 | 17 | 43044391 | G | A |
| rs12525163 | 24325915 | 2099 | ESR1 | umls:C0006142 | BeFree | Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. | 0.24 | 2014 | ESR1 | 6 | 151719156 | T | C |
| rs12539530 | 21281495 | 4897 | NRCAM | umls:C0006142 | BeFree | A significant combined effect of rs12539530, an ERE SNP in intron 2 of NRCAM which codes for a cell adhesion molecule, and SNPs of ESR1, the gene coding for ER, on breast cancer risk was found. | 0.000271442 | 2011 | NRCAM | 7 | 108336117 | G | A |
| rs1256049 | 25341980 | 2100 | ESR2 | umls:C0006142 | BeFree | The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated. | 0.068274001 | 2015 | ESR2 | 14 | 64257333 | C | T |
| rs12570116 | 21828234 | 80007 | C10orf88 | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | ACADSB | 10 | 123016959 | C | T |
| rs12570116 | 21828234 | 36 | ACADSB | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | ACADSB | 10 | 123016959 | C | T |
| rs12623473 | 24711138 | 699 | BUB1 | umls:C0006142 | BeFree | However, the variant rs12623473 in BUB1 was significantly associated with increased BC risk with the odds ratio (OR) of 1.30 (95 % confidence interval (CI) 1.03-1.64) under the allelic model. | 0.003452799 | 2014 | BUB1 | 2 | 110660580 | T | C |
| rs12652447 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | FBXL7 | 5 | 15674526 | G | A |
| rs12676 | 18230680 | 55349 | CHDH | umls:C0006142 | BeFree | Two putatively functional single nucleotide polymorphisms of choline-metabolizing genes, PEMT -774G>C (rs12325817) and CHDH +432G>T (rs12676), were also found be related to breast cancer risk. | 0.003181358 | 2008 | CHDH | 3 | 53823776 | A | C |
| rs12683422 | 25239644 | 1993 | ELAVL2 | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.001357209 | 2015 | LINGO2 | 9 | 27969442 | C | T |
| rs12683422 | 25239644 | 1029 | CDKN2A | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.043366024 | 2015 | LINGO2 | 9 | 27969442 | C | T |
| rs12710696 | 25862352 | 1879 | EBF1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.120271442 | 2015 | NA | 2 | 19121042 | T | C |
| rs12710696 | 25862352 | 79068 | FTO | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.121900093 | 2015 | NA | 2 | 19121042 | T | C |
| rs12710696 | 25862352 | 100422922 | MIR1972-2 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.000271442 | 2015 | NA | 2 | 19121042 | T | C |
| rs12710696 | 25862352 | 2099 | ESR1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.24 | 2015 | NA | 2 | 19121042 | T | C |
| rs12812942 | 19196101 | 7852 | CXCR4 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.028968335 | 2009 | CD4 | 12 | 6813328 | A | T |
| rs12812942 | 19196101 | 1236 | CCR7 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.006167218 | 2009 | CD4 | 12 | 6813328 | A | T |
| rs12812942 | 19196101 | 7422 | VEGFA | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.105385593 | 2009 | CD4 | 12 | 6813328 | A | T |
| rs12906542 | 23354978 | 400406 | ADAMTS7P3 | umls:C0006142 | GWASCAT | Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. | 0.12 | 2013 | NA | 15 | 77977130 | A | G |
| rs12914272 | 24919398 | 6095 | RORA | umls:C0006142 | BeFree | We found that two SNPs in RORA (rs1482057 and rs12914272) were associated with breast cancer in the whole sample and among postmenopausal women. | 0.000814326 | 2015 | RORA | 15 | 60770768 | A | G |
| rs1292011 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | LOC105370003 | 12 | 115398717 | A | G |
| rs1292011 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | LOC105370003 | 12 | 115398717 | A | G |
| rs1292011 | 22348646 | 2099 | ESR1 | umls:C0006142 | BeFree | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). | 0.24 | 2012 | LOC105370003 | 12 | 115398717 | A | G |
| rs12922061 | 24143190 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association study of breast cancer in the Japanese population. | 0.127915422 | 2013 | CASC16 | 16 | 52601088 | C | T |
| rs12945597 | 19432957 | 7156 | TOP3A | umls:C0006142 | BeFree | The rs12945597 in TOP3A and rs2532105 in BLM showed increased risk for breast cancer. | 0.000271442 | 2009 | NA | 17 | 18271367 | G | A |
| rs12945597 | 19432957 | 641 | BLM | umls:C0006142 | BeFree | The rs12945597 in TOP3A and rs2532105 in BLM showed increased risk for breast cancer. | 0.010086957 | 2009 | NA | 17 | 18271367 | G | A |
| rs12946522 | 21750962 | 5889 | RAD51C | umls:C0006142 | BeFree | In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. | 0.016721114 | 2011 | RAD51C;TEX14 | 17 | 58690742 | T | G |
| rs12964873 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | NA | NA | NA | NA | NA |
| rs12983273 | 23982873 | 442918 | MIR373 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001900093 | 2013 | MIR373;MIR371B | 19 | 53788578 | C | T |
| rs12983273 | 23982873 | 494335 | MIR423 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.000814326 | 2013 | MIR373;MIR371B | 19 | 53788578 | C | T |
| rs12983273 | 23982873 | 406938 | MIR146A | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.008262808 | 2013 | MIR373;MIR371B | 19 | 53788578 | C | T |
| rs12983273 | 23982873 | 406941 | MIR149 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001357209 | 2013 | MIR373;MIR371B | 19 | 53788578 | C | T |
| rs12998 | 25810563 | 3814 | KISS1 | umls:C0006142 | BeFree | Polymorphisms rs12998 and rs5780218 in KiSS1 suppressor metastasis gene in Mexican patients with breast cancer. | 0.00643866 | 2015 | KISS1 | 1 | 204192819 | C | T |
| rs13006529 | 23212337 | 9360 | PPIG | umls:C0006142 | BeFree | This meta-analysis suggests that the rs13006529 T carrier in the CASP-10 gene might be a risk factor for cancer susceptibility, especially for breast cancer. | 0.002714419 | 2012 | CASP10 | 2 | 201217736 | T | A |
| rs13010627 | 20978178 | 843 | CASP10 | umls:C0006142 | BeFree | Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population. | 0.005819831 | 2010 | CASP10 | 2 | 201209375 | G | A |
| rs13010627 | 16251207 | 843 | CASP10 | umls:C0006142 | BeFree | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. | 0.005819831 | 2006 | CASP10 | 2 | 201209375 | G | A |
| rs13010627 | 16251207 | 841 | CASP8 | umls:C0006142 | BeFree | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. | 0.049197125 | 2006 | CASP10 | 2 | 201209375 | G | A |
| rs13010627 | 19423537 | 637 | BID | umls:C0006142 | BeFree | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. | 0.005819831 | 2009 | CASP10 | 2 | 201209375 | G | A |
| rs13025833 | 25824743 | 1496 | CTNNA2 | umls:C0006142 | GWASCAT | A pilot genome-wide association study of breast cancer susceptibility loci in Indonesia. | 0.12 | 2016 | CTNNA2 | 2 | 79716982 | A | G |
| rs131113549 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | NA | NA | NA | NA | NA |
| rs131113549 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | NA | NA | NA | NA | NA |
| rs131113549 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | NA | NA | NA | NA | NA |
| rs131113549 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | NA | NA | NA | NA | NA |
| rs131113549 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | NA | NA | NA | NA | NA |
| rs131113549 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | NA | NA | NA | NA | NA |
| rs13116936 | 23468962 | 79931 | TNIP3 | umls:C0006142 | GWASCAT | A genome-wide scan for breast cancer risk haplotypes among African American women. | 0.12 | 2013 | TNIP3 | 4 | 121205653 | G | T |
| rs1314913 | 23001122 | 5890 | RAD51B | umls:C0006142 | GWASCAT | Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. | 0.132453989 | 2012 | RAD51B | 14 | 68232877 | C | T |
| rs1314913 | 26248686 | 672 | BRCA1 | umls:C0006142 | BeFree | Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 strongly influence BC risk in men and suggested that the SNP rs1314913/14q24.1 may act as a risk modifier locus in male BRCA1/2 mutation carriers. | 0.36 | 2015 | RAD51B | 14 | 68232877 | C | T |
| rs13181 | 16002061 | 4683 | NBN | umls:C0006142 | BeFree | For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable difference for genotype distributions and allele frequencies was observed between BC group and control group in the study. | 0.193953213 | 2005 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18459458 | 2068 | ERCC2 | umls:C0006142 | BeFree | The results support the hypothesis that the Lys751Gln polymorphism of XPD gene may be associated with the incidence of breast cancer. | 0.083616838 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18767034 | 2074 | ERCC6 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.00973957 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 16319991 | 2068 | ERCC2 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.083616838 | 2006 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18767034 | 2072 | ERCC4 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.031933128 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24933103 | 7517 | XRCC3 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.084507108 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 16319991 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.098186605 | 2006 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24933103 | 2067 | ERCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.017806881 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 19615095 | 2068 | ERCC2 | umls:C0006142 | BeFree | Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population. | 0.083616838 | 2009 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24933103 | 2068 | ERCC2 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.083616838 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24933103 | 7515 | XRCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.098186605 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24933103 | 672 | BRCA1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.36 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 20379847 | 2068 | ERCC2 | umls:C0006142 | BeFree | Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. | 0.083616838 | 2010 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24933103 | 5243 | ABCB1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.096710723 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs132390 | 23535729 | 129080 | EMID1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | EMID1;LOC105372985 | 22 | 29225488 | C | T |
| rs132770 | 25569644 | 2547 | XRCC6 | umls:C0006142 | BeFree | Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in other cancers.Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms. | 0.014549579 | 2015 | XRCC6;DESI1 | 22 | 41621260 | A | G |
| rs132788 | 23098447 | 2547 | XRCC6 | umls:C0006142 | BeFree | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A>G), rs132788 (G>T) and rs132793 (G>A) in XRCC6 gene might be risk factors for breast cancer, while the rs132788 (G>T) and rs6002421 (A>G) in XRCC6 gene might be protective. | 0.014549579 | 2012 | XRCC6 | 22 | 41663764 | G | A,T |
| rs132793 | 25569644 | 2547 | XRCC6 | umls:C0006142 | BeFree | Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in other cancers.Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms. | 0.014549579 | 2015 | NA | 22 | 41667677 | A | G |
| rs132793 | 23098447 | 2547 | XRCC6 | umls:C0006142 | BeFree | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A>G), rs132788 (G>T) and rs132793 (G>A) in XRCC6 gene might be risk factors for breast cancer, while the rs132788 (G>T) and rs6002421 (A>G) in XRCC6 gene might be protective. | 0.014549579 | 2012 | NA | 22 | 41667677 | A | G |
| rs13281615 | 24780616 | 5820 | PVT1 | umls:C0006142 | BeFree | Frequent mutation of rs13281615 and its association with PVT1 expression and cell proliferation in breast cancer. | 0.000814326 | 2014 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 20145138 | 4046 | LSP1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.161672698 | 2010 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 20145138 | 841 | CASP8 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.049197125 | 2010 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 20145138 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.166482707 | 2010 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22965832 | 7096 | TLR1 | umls:C0006142 | BeFree | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with increased breast cancer risk, with per-allele ORs (95 % CI) of 1.16 (1.00-1.34), 1.15 (1.02-1.29), and 1.15 (1.01-1.29), respectively. | 0.003452799 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 23292077 | 675 | BRCA2 | umls:C0006142 | BeFree | There was no evidence for significant association between 8q24 rs13281615A > G polymorphism and breast cancer risk in BRCA1 and BRCA2 positive cohort in all comparable models. | 0.48 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22965832 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with increased breast cancer risk, with per-allele ORs (95 % CI) of 1.16 (1.00-1.34), 1.15 (1.02-1.29), and 1.15 (1.01-1.29), respectively. | 0.166482707 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 24532140 | 672 | BRCA1 | umls:C0006142 | BeFree | In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs13387042 (2q35), and rs13281615 (8q24) with BC risk in 344 Chilean BRCA1/2-negative BC cases and in 801 controls. | 0.36 | 2014 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 24780616 | 2099 | ESR1 | umls:C0006142 | BeFree | In addition to confirming the association of the GG genotype of rs13281615 with breast cancer risk, we found that germline GG genotype was significantly associated with estrogen receptor (ER) positivity, higher tumor grade and higher proliferation index. | 0.24 | 2014 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13281615 | 23292077 | 672 | BRCA1 | umls:C0006142 | BeFree | There was no evidence for significant association between 8q24 rs13281615A > G polymorphism and breast cancer risk in BRCA1 and BRCA2 positive cohort in all comparable models. | 0.36 | 2012 | CASC8;CASC21 | 8 | 127343372 | A | G |
| rs13283662 | 21748294 | 27324 | TOX3 | umls:C0006142 | BeFree | In conclusion, except for the association of rs13283662 with TOX3 gene expression indicating a tumor suppressor role of TOX3, our findings suggest that breast cancer low-risk loci generally do not affect expression of the nearest gene in breast tumor tissue. | 0.170011451 | 2012 | UHRF2 | 9 | 6428530 | T | C |
| rs13329835 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13329835 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13329835 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13329835 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13329835 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13329835 | 23535729 | 124359 | CDYL2 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13329835 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | CDYL2 | 16 | 80616908 | A | G |
| rs13387042 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 24532140 | 672 | BRCA1 | umls:C0006142 | BeFree | In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs13387042 (2q35), and rs13281615 (8q24) with BC risk in 344 Chilean BRCA1/2-negative BC cases and in 801 controls. | 0.36 | 2014 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 19789366 | 2263 | FGFR2 | umls:C0006142 | BeFree | Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk. | 0.229599312 | 2009 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 19567422 | 2099 | ESR1 | umls:C0006142 | BeFree | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. | 0.24 | 2009 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | LOC101928278 | 2 | 217041109 | A | G |
| rs13387042 | 21475998 | 4214 | MAP3K1 | umls:C0006142 | BeFree | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to replicate in the 4-Corner's Breast Cancer Study of Hispanic (N = 565 cases and 714 controls) and non-Hispanic white (NHW) women (N = 1177 cases and 1330 controls). | 0.166482707 | 2011 | LOC101928278 | 2 | 217041109 | A | G |
| rs13393577 | 22452962 | 1956 | EGFR | umls:C0006142 | BeFree | SNP rs13393577 at chromosome 2q34, located in the Epidermal Growth Factor Receptor 4 (ERBB4) gene, showed a consistent association with breast cancer risk with combined odds ratios (95% CI) of 1.53 (1.37-1.70) (combined P for trend = 8.8 × 10-14). | 0.10367032 | 2012 | ERBB4 | 2 | 212432139 | T | C |
| rs13393577 | 22452962 | 2066 | ERBB4 | umls:C0006142 | GWASCAT | A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. | 0.132214884 | 2012 | ERBB4 | 2 | 212432139 | T | C |
| rs1346044 | 16501249 | 7157 | TP53 | umls:C0006142 | BeFree | The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared to the single polymorphisms (OR = 3.39, 95% CI 1.19-9.71). | 0.24 | 2006 | WRN;LOC105379359 | 8 | 31167138 | T | C |
| rs1346044 | 16501249 | 7486 | WRN | umls:C0006142 | BeFree | The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared to the single polymorphisms (OR = 3.39, 95% CI 1.19-9.71). | 0.010553895 | 2006 | WRN;LOC105379359 | 8 | 31167138 | T | C |
| rs1353747 | 23535729 | 5144 | PDE4D | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | PDE4D;LOC105378990 | 5 | 59041654 | T | G |
| rs140694361 | 18058229 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.24 | 2008 | TP53;WRAP53 | 17 | 7688680 | C | T |
| rs140694361 | 18058229 | 7157 | TP53 | umls:C0006142 | BeFree | TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian women and TGFbeta1 Pro (Leu10Pro) allele predicts response to neo-adjuvant chemo-radiotherapy. | 0.24 | 2008 | TP53;WRAP53 | 17 | 7688680 | C | T |
| rs140694361 | 18058229 | 2944 | GSTM1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.101986792 | 2008 | TP53;WRAP53 | 17 | 7688680 | C | T |
| rs140694361 | 18058229 | 2952 | GSTT1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.09601507 | 2008 | TP53;WRAP53 | 17 | 7688680 | C | T |
| rs140694361 | 18058229 | 2950 | GSTP1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.099000931 | 2008 | TP53;WRAP53 | 17 | 7688680 | C | T |
| rs140701 | 20180013 | 1813 | DRD2 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.005276948 | 2010 | SLC6A4 | 17 | 30211514 | C | T |
| rs140701 | 20180013 | 6532 | SLC6A4 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.003724241 | 2010 | SLC6A4 | 17 | 30211514 | C | T |
| rs140701 | 20180013 | 1814 | DRD3 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.002638474 | 2010 | SLC6A4 | 17 | 30211514 | C | T |
| rs141613848 | 24012959 | 9368 | SLC9A3R1 | umls:C0006142 | BeFree | These results further demonstrated the functional consequences of breast cancer-derived nherf1 mutations (K172N and D301V), and suggested the causal role of NHERF1 in tumor development and progression. | 0.002442977 | 2013 | SLC9A3R1 | 17 | 74768481 | A | T |
| rs1421125 | 23481304 | 10194 | TSHZ1 | umls:C0006142 | BeFree | Further haplotype analysis showed that the CAA haplotype of rs623590-rs11662595-rs1421125 was more frequent among patients with breast cancer (adjusted OR, 1.856; 95% CI, 1.236-2.787; P=0.003). | 0.001085767 | 2013 | HRH4 | 18 | 24477947 | G | T |
| rs1432679 | 25862352 | 1879 | EBF1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.120271442 | 2015 | EBF1 | 5 | 158817075 | C | T |
| rs1432679 | 23535729 | 1879 | EBF1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.120271442 | 2013 | EBF1 | 5 | 158817075 | C | T |
| rs1432679 | 25862352 | 100422922 | MIR1972-2 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.000271442 | 2015 | EBF1 | 5 | 158817075 | C | T |
| rs1432679 | 25862352 | 79068 | FTO | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.121900093 | 2015 | EBF1 | 5 | 158817075 | C | T |
| rs1432679 | 25862352 | 2099 | ESR1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.24 | 2015 | EBF1 | 5 | 158817075 | C | T |
| rs1436904 | 23535729 | 83539 | CHST9 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | CHST9 | 18 | 26990703 | T | G |
| rs144208043 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144208043 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144208043 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144208043 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144208043 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144208043 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144208043 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875448 | G | A |
| rs144848 | 15113441 | 328 | APEX1 | umls:C0006142 | BeFree | Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. | 0.018816704 | 2004 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 17767707 | 675 | BRCA2 | umls:C0006142 | BeFree | Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations. | 0.48 | 2007 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 12496039 | 7515 | XRCC1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.098186605 | 2002 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 20352487 | 675 | BRCA2 | umls:C0006142 | BeFree | Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present. | 0.48 | 2011 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 20352487 | 672 | BRCA1 | umls:C0006142 | BeFree | Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present. | 0.36 | 2011 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 16485136 | 7517 | XRCC3 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.084507108 | 2006 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 12496039 | 4968 | OGG1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.026189242 | 2002 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 20135345 | 675 | BRCA2 | umls:C0006142 | BeFree | BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis involving 44,903 subjects. | 0.48 | 2010 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 16257105 | 675 | BRCA2 | umls:C0006142 | BeFree | To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia. | 0.48 | 2006 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 12496039 | 675 | BRCA2 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.48 | 2002 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 15113441 | 675 | BRCA2 | umls:C0006142 | BeFree | Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. | 0.48 | 2004 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 16485136 | 675 | BRCA2 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.48 | 2006 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 16485136 | 59348 | ZNF350 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.009272631 | 2006 | BRCA2 | 13 | 32332592 | A | C |
| rs1449683 | 22315135 | 2258 | FGF13 | umls:C0006142 | BeFree | Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109324, rs154765 and rs833052, one polymorphism at the promoter of the VEGFR1 (-710 C/T) and another in the FGF2, rs1449683, gene to explore their association with BC susceptibility. | 0.002442977 | 2012 | FGF2 | 4 | 122826931 | C | T |
| rs1465061 | 19404734 | 2534 | FYN | umls:C0006142 | BeFree | A total of 22 SNPs from 13 kinase genes displayed significant associations with breast cancer risk (P(trend) < or = 0.05), including two SNPs from FYN (rs6914091 and rs1465061) that remained of interest after accounting for multiple testing (q = 0.06). | 0.000814326 | 2010 | FYN | 6 | 111760413 | G | A |
| rs1466785 | 24698998 | 675 | BRCA2 | umls:C0006142 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.48 | 2014 | NA | 8 | 11765947 | C | T |
| rs1466785 | 24698998 | 672 | BRCA1 | umls:C0006142 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.36 | 2014 | NA | 8 | 11765947 | C | T |
| rs1466785 | 24698998 | 252969 | NEIL2 | umls:C0006142 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.002638474 | 2014 | NA | 8 | 11765947 | C | T |
| rs1477196 | 24023349 | 79068 | FTO | umls:C0006142 | BeFree | To analyze associations between homocysteine level, MTHFR and FTO rs1477196 polymorphisms and folate status in patients with breast cancer (BC) in order to clarify determinants of hyperhomocysteinemia. | 0.121900093 | 2013 | FTO | 16 | 53774346 | A | G |
| rs1482057 | 24919398 | 6095 | RORA | umls:C0006142 | BeFree | We found that two SNPs in RORA (rs1482057 and rs12914272) were associated with breast cancer in the whole sample and among postmenopausal women. | 0.000814326 | 2015 | RORA | 15 | 60772552 | A | C |
| rs148972953 | 23341997 | 5241 | PGR | umls:C0006142 | BeFree | In addition, we genotyped all three SNPs in 296 samples from the Risk Prediction of Breast Cancer Metastasis Study and found evidence of a genetic association between rs148972953 and oestrogen (ER) and progesterone receptor negative status (PR) (ER: OR = 3.60 (1.15-11.28); PR: OR = 4.27 (1.43-12.72)). | 0.132074704 | 2013 | LAMTOR3 | 4 | 99881589 | A | G |
| rs1501299 | 23624817 | 9370 | ADIPOQ | umls:C0006142 | BeFree | We found that rs1501299, a functional SNP of ADIPOQ that we previously reported was associated with breast cancer risk in a mostly Caucasian population, was also significantly associated with breast cancer incidence (HR for the GG/TG genotype: 1.23; 95 % CI 1.059-1.43) in African American women. | 0.003452799 | 2013 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1503185 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | PTPRJ | 11 | 48125070 | G | A |
| rs153109 | 25146683 | 53342 | IL17D | umls:C0006142 | BeFree | The aim of the present study was to investigate the association between a potentially functional polymorphism (rs153109, -964A>G) at the promoter of IL-27 and the risk of breast cancer in a Chinese population. | 0.000271442 | 2014 | IL27;NPIPB8 | 16 | 28507775 | T | C |
| rs1532268 | 18842997 | 4552 | MTRR | umls:C0006142 | BeFree | Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A1793G) did not differ among the study groups; however, MDI tended to be higher in BRCA carriers with breast cancer than those without and was significantly increased in MTHFR 677T allele carriers relative to wild-type carriers (P=0.017). | 0.016916611 | 2008 | MTRR | 5 | 7878066 | C | T |
| rs1537514 | 24130171 | 4552 | MTRR | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.016916611 | 2014 | MTHFR;C1orf167 | 1 | 11788011 | G | C |
| rs1537514 | 24130171 | 4524 | MTHFR | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.100901024 | 2014 | MTHFR;C1orf167 | 1 | 11788011 | G | C |
| rs1537514 | 24130171 | 6573 | SLC19A1 | umls:C0006142 | BeFree | We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). | 0.005624334 | 2014 | MTHFR;C1orf167 | 1 | 11788011 | G | C |
| rs1544410 | 19124512 | 7421 | VDR | umls:C0006142 | BeFree | Two common single nucleotide polymorphisms (SNP) in the VDR gene (VDR), rs1544410 (BsmI), and rs2228570 (FokI), have been inconsistently associated with breast cancer risk. | 0.065918239 | 2009 | VDR;LOC105369749 | 12 | 47846052 | C | T |
| rs154765 | 22315135 | 2258 | FGF13 | umls:C0006142 | BeFree | Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109324, rs154765 and rs833052, one polymorphism at the promoter of the VEGFR1 (-710 C/T) and another in the FGF2, rs1449683, gene to explore their association with BC susceptibility. | 0.002442977 | 2012 | NA | 5 | 115769132 | T | C |
| rs1562430 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | CASC8;CASC21 | 8 | 127375606 | T | C |
| rs1562430 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | CASC8;CASC21 | 8 | 127375606 | T | C |
| rs1562430 | 25302443 | 727677 | CASC8 | umls:C0006142 | BeFree | Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were associated with risk of the colorectal cancer (CRC) and breast cancer, respectively. | 0.000271442 | 2014 | CASC8;CASC21 | 8 | 127375606 | T | C |
| rs1562430 | 26248686 | 672 | BRCA1 | umls:C0006142 | BeFree | Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 strongly influence BC risk in men and suggested that the SNP rs1314913/14q24.1 may act as a risk modifier locus in male BRCA1/2 mutation carriers. | 0.36 | 2015 | CASC8;CASC21 | 8 | 127375606 | T | C |
| rs1562430 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | CASC8;CASC21 | 8 | 127375606 | T | C |
| rs1562430 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | CASC8;CASC21 | 8 | 127375606 | T | C |
| rs1580833 | 21792883 | 1666 | DECR1 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.001357209 | 2011 | LOC105371284 | 16 | 56610738 | C | A |
| rs1580833 | 21792883 | 7295 | TXN | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.01062984 | 2011 | LOC105371284 | 16 | 56610738 | C | A |
| rs1580833 | 21792883 | 25828 | TXN2 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.00764398 | 2011 | LOC105371284 | 16 | 56610738 | C | A |
| rs1580833 | 21792883 | 1535 | CYBA | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.000542884 | 2011 | LOC105371284 | 16 | 56610738 | C | A |
| rs162049 | 20180013 | 81539 | SLC38A1 | umls:C0006142 | BeFree | A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44). | 0.006786047 | 2010 | MTRR | 5 | 7893008 | G | A |
| rs162049 | 20180013 | 4552 | MTRR | umls:C0006142 | BeFree | A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44). | 0.016916611 | 2010 | MTRR | 5 | 7893008 | G | A |
| rs164390 | 24386390 | 2064 | ERBB2 | umls:C0006142 | BeFree | In addition, rs164390 was associated with Her2-negative BC. | 0.24 | 2013 | CCNB1 | 5 | 69167187 | G | T |
| rs167770 | 20180013 | 1814 | DRD3 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.002638474 | 2010 | DRD3 | 3 | 114160715 | G | A |
| rs167770 | 20180013 | 6532 | SLC6A4 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.003724241 | 2010 | DRD3 | 3 | 114160715 | G | A |
| rs167770 | 20180013 | 1813 | DRD2 | umls:C0006142 | BeFree | Furthermore, SNPs of the genes that contribute to alcohol behavior, DRD3 (rs167770), DRD2 (rs10891556), and SLC6A4 (rs140701), were also associated with an increased risk of breast cancer. | 0.005276948 | 2010 | DRD3 | 3 | 114160715 | G | A |
| rs16857609 | 23535729 | 729582 | DIRC3 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | DIRC3 | 2 | 217431785 | C | T |
| rs16886165 | 22965832 | 7096 | TLR1 | umls:C0006142 | BeFree | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with increased breast cancer risk, with per-allele ORs (95 % CI) of 1.16 (1.00-1.34), 1.15 (1.02-1.29), and 1.15 (1.01-1.29), respectively. | 0.003452799 | 2012 | NA | 5 | 56727256 | T | G |
| rs16886165 | 22965832 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with increased breast cancer risk, with per-allele ORs (95 % CI) of 1.16 (1.00-1.34), 1.15 (1.02-1.29), and 1.15 (1.01-1.29), respectively. | 0.166482707 | 2012 | NA | 5 | 56727256 | T | G |
| rs16886165 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | NA | 5 | 56727256 | T | G |
| rs16886165 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | NA | 5 | 56727256 | T | G |
| rs16886165 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | NA | 5 | 56727256 | T | G |
| rs16886165 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | NA | 5 | 56727256 | T | G |
| rs16886364 | 24493630 | 4214 | MAP3K1 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.166482707 | 2015 | MAP3K1 | 5 | 56826517 | A | G |
| rs16886397 | 24493630 | 4214 | MAP3K1 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.166482707 | 2015 | MAP3K1 | 5 | 56838449 | A | G |
| rs16886448 | 24493630 | 4214 | MAP3K1 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.166482707 | 2015 | MAP3K1 | 5 | 56874986 | C | G |
| rs16888927 | 19276285 | 5885 | RAD21 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.001085767 | 2009 | RAD21 | 8 | 116857221 | A | G |
| rs16888927 | 19276285 | 675 | BRCA2 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.48 | 2009 | RAD21 | 8 | 116857221 | A | G |
| rs16888927 | 19276285 | 672 | BRCA1 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.36 | 2009 | RAD21 | 8 | 116857221 | A | G |
| rs16888997 | 19276285 | 675 | BRCA2 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.48 | 2009 | RAD21 | 8 | 116864169 | C | T |
| rs16888997 | 19276285 | 5885 | RAD21 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.001085767 | 2009 | RAD21 | 8 | 116864169 | C | T |
| rs16888997 | 19276285 | 672 | BRCA1 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.36 | 2009 | RAD21 | 8 | 116864169 | C | T |
| rs16889040 | 19276285 | 672 | BRCA1 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.36 | 2009 | RAD21 | 8 | 116866452 | C | T |
| rs16889040 | 19276285 | 5885 | RAD21 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.001085767 | 2009 | RAD21 | 8 | 116866452 | C | T |
| rs16889040 | 19276285 | 675 | BRCA2 | umls:C0006142 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.48 | 2009 | RAD21 | 8 | 116866452 | C | T |
| rs16917302 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | ZNF365 | 10 | 62501439 | A | C |
| rs1693482 | 20350778 | 126 | ADH1C | umls:C0006142 | BeFree | Interaction between ADH1C Arg(272)Gln and alcohol intake in relation to breast cancer risk suggests that ethanol is the causal factor in alcohol related breast cancer. | 0.018740759 | 2010 | ADH1C | 4 | 99342808 | C | T |
| rs16942 | 20352487 | 672 | BRCA1 | umls:C0006142 | BeFree | Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present. | 0.36 | 2011 | BRCA1 | 17 | 43091983 | T | C |
| rs16942 | 20352487 | 675 | BRCA2 | umls:C0006142 | BeFree | Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present. | 0.48 | 2011 | BRCA1 | 17 | 43091983 | T | C |
| rs16943468 | 19454617 | 5414 | 4-Sep | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | YPEL2 | 17 | 59367748 | T | C |
| rs16943468 | 19454617 | 56155 | TEX14 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | YPEL2 | 17 | 59367748 | T | C |
| rs16943468 | 19454617 | 388403 | YPEL2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.005005506 | 2009 | YPEL2 | 17 | 59367748 | T | C |
| rs16943468 | 19454617 | 11011 | TLK2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002909916 | 2009 | YPEL2 | 17 | 59367748 | T | C |
| rs1695 | 19921428 | 675 | BRCA2 | umls:C0006142 | BeFree | Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.48 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18058229 | 2952 | GSTT1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.09601507 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23000097 | 1543 | CYP1A1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.103886885 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 9407957 | 373156 | GSTK1 | umls:C0006142 | BeFree | When COMT(LL) was combined with either glutathione S-transferase (GST) M1 null or with GSTP1 Ile-105-Val/Val-105-Val (intermediate/low activity, respectively) genotypes, the risk for developing postmenopausal breast cancer was also significantly increased. | 0.013843535 | 1997 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18058229 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.24 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19760040 | 2944 | GSTM1 | umls:C0006142 | BeFree | Cytosolic glutathione S-transferase comprises multiple isoenzymes; studies have principally examined mu-1 (GSTM1: null/present), theta-1 (GSTT1: null/present) and pi-1 (GSTP1 Ile105Val) gene polymorphisms concerning breast cancer risk. | 0.101986792 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 9407957 | 27306 | HPGDS | umls:C0006142 | BeFree | When COMT(LL) was combined with either glutathione S-transferase (GST) M1 null or with GSTP1 Ile-105-Val/Val-105-Val (intermediate/low activity, respectively) genotypes, the risk for developing postmenopausal breast cancer was also significantly increased. | 0.016829396 | 1997 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23000097 | 1312 | COMT | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101172466 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19469640 | 5241 | PGR | umls:C0006142 | BeFree | However, the data pointed to a relation of the GSTP1(Ile105Val) polymorphism with progesterone receptor status (P = 0.04) and age at diagnosis (P = 0.03) of breast cancer cases. | 0.132074704 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 12873994 | 2950 | GSTP1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.099000931 | 2003 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17696741 | 2950 | GSTP1 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.099000931 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19921428 | 2950 | GSTP1 | umls:C0006142 | BeFree | Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.099000931 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23000097 | 2944 | GSTM1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101986792 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18058229 | 2944 | GSTM1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.101986792 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19921428 | 672 | BRCA1 | umls:C0006142 | BeFree | Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.36 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 12873994 | 7296 | TXNRD1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.009001189 | 2003 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23000097 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.096829396 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19921428 | 2952 | GSTT1 | umls:C0006142 | BeFree | This study showed no evidence for altered risk of breast cancer for individuals with the GSTT1 and GSTM1 deletion variants, but did report that the GSTP1 Ile105Val (rs1695) variant was associated with increased breast cancer risk in carriers. | 0.09601507 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19469640 | 133482 | SLCO6A1 | umls:C0006142 | BeFree | While GST genotypes may not be associated with susceptibility, a GSTP1 polymorphism (Ile105Val) may be related to progression of breast cancer. | 0.013572094 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19921428 | 2944 | GSTM1 | umls:C0006142 | BeFree | This study showed no evidence for altered risk of breast cancer for individuals with the GSTT1 and GSTM1 deletion variants, but did report that the GSTP1 Ile105Val (rs1695) variant was associated with increased breast cancer risk in carriers. | 0.101986792 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 9407957 | 2950 | GSTP1 | umls:C0006142 | BeFree | When COMT(LL) was combined with either glutathione S-transferase (GST) M1 null or with GSTP1 Ile-105-Val/Val-105-Val (intermediate/low activity, respectively) genotypes, the risk for developing postmenopausal breast cancer was also significantly increased. | 0.099000931 | 1997 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23000097 | 2952 | GSTT1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.09601507 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 9407957 | 133482 | SLCO6A1 | umls:C0006142 | BeFree | When COMT(LL) was combined with either glutathione S-transferase (GST) M1 null or with GSTP1 Ile-105-Val/Val-105-Val (intermediate/low activity, respectively) genotypes, the risk for developing postmenopausal breast cancer was also significantly increased. | 0.013572094 | 1997 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17696741 | 2944 | GSTM1 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.101986792 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19760040 | 27306 | HPGDS | umls:C0006142 | BeFree | Cytosolic glutathione S-transferase comprises multiple isoenzymes; studies have principally examined mu-1 (GSTM1: null/present), theta-1 (GSTT1: null/present) and pi-1 (GSTP1 Ile105Val) gene polymorphisms concerning breast cancer risk. | 0.016829396 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21454829 | 2950 | GSTP1 | umls:C0006142 | BeFree | Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. | 0.099000931 | 2011 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17416769 | 2944 | GSTM1 | umls:C0006142 | BeFree | We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to assess the roles of detoxification gene polymorphisms EPHX T>C Tyr(113)His, GSTT1 deletion, GSTM1 deletion, and GSTP1 A>G Ile(105)Val on risk of breast cancer. | 0.101986792 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 25674268 | 2950 | GSTP1 | umls:C0006142 | BeFree | Variants of GSTP1 rs1695 are associated with response to chemotherapy and PFS and OS of breast cancer patients, and this gene polymorphism could help in the design of individualized therapy. | 0.099000931 | 2014 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18058229 | 2950 | GSTP1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.099000931 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19469640 | 373156 | GSTK1 | umls:C0006142 | BeFree | While GST genotypes may not be associated with susceptibility, a GSTP1 polymorphism (Ile105Val) may be related to progression of breast cancer. | 0.013843535 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17416769 | 2052 | EPHX1 | umls:C0006142 | BeFree | We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to assess the roles of detoxification gene polymorphisms EPHX T>C Tyr(113)His, GSTT1 deletion, GSTM1 deletion, and GSTP1 A>G Ile(105)Val on risk of breast cancer. | 0.010282454 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19469640 | 2950 | GSTP1 | umls:C0006142 | BeFree | While GST genotypes may not be associated with susceptibility, a GSTP1 polymorphism (Ile105Val) may be related to progression of breast cancer. | 0.099000931 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 12873994 | 1666 | DECR1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.001357209 | 2003 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 12873994 | 2944 | GSTM1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.101986792 | 2003 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23000097 | 2950 | GSTP1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.099000931 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17696741 | 7157 | TP53 | umls:C0006142 | BeFree | Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. | 0.24 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18326615 | 2950 | GSTP1 | umls:C0006142 | BeFree | Cruciferous vegetables, the GSTP1 Ile105Val genetic polymorphism, and breast cancer risk. | 0.099000931 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs16955329 | 20699374 | 140468 | COX11P1 | umls:C0006142 | BeFree | In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). | 0.001085767 | 2010 | NA | 17 | 54891767 | T | G |
| rs16979877 | 21630024 | 7764 | ZNF217 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.00434307 | 2011 | CSTF1;AURKA | 20 | 56392982 | A | G |
| rs16979877 | 21630024 | 4605 | MYBL2 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.002171535 | 2011 | CSTF1;AURKA | 20 | 56392982 | A | G |
| rs16979877 | 21630024 | 6790 | AURKA | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.038252236 | 2011 | CSTF1;AURKA | 20 | 56392982 | A | G |
| rs17024926 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | NPAS2 | 2 | 100889540 | T | C |
| rs17024926 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | NPAS2 | 2 | 100889540 | T | C |
| rs17024926 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | NPAS2 | 2 | 100889540 | T | C |
| rs17024926 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | NPAS2 | 2 | 100889540 | T | C |
| rs17024926 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | NPAS2 | 2 | 100889540 | T | C |
| rs17024926 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | NPAS2 | 2 | 100889540 | T | C |
| rs17202060 | 24278290 | 7296 | TXNRD1 | umls:C0006142 | BeFree | Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. | 0.009001189 | 2013 | TXNRD1 | 12 | 104337068 | C | T |
| rs17222691 | 21750962 | 5889 | RAD51C | umls:C0006142 | BeFree | In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. | 0.016721114 | 2011 | RAD51C;TEX14 | 17 | 58693735 | C | T |
| rs1726801 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs1726801 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs1726801 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs1726801 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs1726801 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs1726801 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs1726801 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | POLD1 | 19 | 50401817 | G | A |
| rs17435444 | 23468962 | 79931 | TNIP3 | umls:C0006142 | GWASCAT | A genome-wide scan for breast cancer risk haplotypes among African American women. | 0.12 | 2013 | TNIP3 | 4 | 121200339 | A | G |
| rs17468277 | 20145138 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.166482707 | 2010 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 20145138 | 841 | CASP8 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.049197125 | 2010 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 20145138 | 4046 | LSP1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.161672698 | 2010 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17468277 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | ALS2CR12 | 2 | 201289477 | C | T |
| rs17506395 | 24316488 | 6121 | RPE65 | umls:C0006142 | BeFree | A genetic variant in p63 (rs17506395) is associated with breast cancer susceptibility and prognosis. | 0.002171535 | 2013 | TP63 | 3 | 189803530 | T | G |
| rs175080 | 19781088 | 4438 | MSH4 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.000271442 | 2009 | MLH3 | 14 | 75047125 | G | A |
| rs175080 | 19781088 | 27030 | MLH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.002909916 | 2009 | MLH3 | 14 | 75047125 | G | A |
| rs175080 | 19781088 | 4437 | MSH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.012605878 | 2009 | MLH3 | 14 | 75047125 | G | A |
| rs175080 | 19781088 | 2956 | MSH6 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.015363904 | 2009 | MLH3 | 14 | 75047125 | G | A |
| rs17529111 | 23593120 | 440193 | CCDC88C | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.120271442 | 2013 | NA | 6 | 81418669 | T | C |
| rs17529111 | 23593120 | 1029 | CDKN2A | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.043366024 | 2013 | NA | 6 | 81418669 | T | C |
| rs17529111 | 23593120 | 55603 | FAM46A | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.000271442 | 2013 | NA | 6 | 81418669 | T | C |
| rs17550038 | 24927736 | 2263 | FGFR2 | umls:C0006142 | BeFree | The TACC2 signal was retained (rs17550038: OR = 1.15, 95% CI 1.07-1.23, P = 7.9 × 10(-5)) after adjustment for breast cancer risk SNPs in the nearby FGFR2 gene, suggesting that TACC2 is a novel, independent genome-wide significant genetic risk locus for low-grade breast cancer. | 0.229599312 | 2015 | TACC2 | 10 | 122031174 | G | C |
| rs17550038 | 24927736 | 8667 | EIF3H | umls:C0006142 | BeFree | SNPs in TACC2 [rs17550038: odds ratio (OR) = 1.24, 95% confidence interval (CI) 1.16-1.33, P = 4.2 × 10(-10)) and EIF3H (rs799890: OR = 1.07, 95% CI 1.04-1.11, P = 8.7 × 10(-6)) were significantly associated with risk of low-grade breast cancer. | 0.000814326 | 2015 | TACC2 | 10 | 122031174 | G | C |
| rs17550038 | 24927736 | 10579 | TACC2 | umls:C0006142 | BeFree | The TACC2 signal was retained (rs17550038: OR = 1.15, 95% CI 1.07-1.23, P = 7.9 × 10(-5)) after adjustment for breast cancer risk SNPs in the nearby FGFR2 gene, suggesting that TACC2 is a novel, independent genome-wide significant genetic risk locus for low-grade breast cancer. | 0.003181358 | 2015 | TACC2 | 10 | 122031174 | G | C |
| rs17561 | 17932347 | 3552 | IL1A | umls:C0006142 | BeFree | Assuming a dominant genetic model, IL1A A114S significantly modified the dose-response relationship between cumulative personal diagnostic radiation and breast cancer risk, adjusted for occupational dose (P(interaction) = 0.004). | 0.01827382 | 2007 | IL1A | 2 | 112779646 | C | A |
| rs17655 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 21424776 | 2072 | ERCC4 | umls:C0006142 | BeFree | Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. | 0.031933128 | 2011 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18767034 | 2074 | ERCC6 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.00973957 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 21424776 | 2073 | ERCC5 | umls:C0006142 | BeFree | Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. | 0.018740759 | 2011 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 24582975 | 2073 | ERCC5 | umls:C0006142 | BeFree | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs17655 G allele had a greatly increased risk of breast cancer. | 0.018740759 | 2014 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18767034 | 2073 | ERCC5 | umls:C0006142 | BeFree | Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main effect association with breast cancer risk (OR(GC) = 1.1, OR(CC) = 1.3; p-trend = 0.08), with some indication that individuals carrying the C allele variant were more susceptible to the effects of occupational radiation (EOR/Gy(GG) = 1.0, 95% CI = <0, 6.0; EOR/Gy(GC/CC) = 5.9, 95% CI = 0.9, 14.4; p(het) = 0.10). | 0.018740759 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 18767034 | 2072 | ERCC4 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.031933128 | 2008 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 24582975 | 2067 | ERCC1 | umls:C0006142 | BeFree | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs17655 G allele had a greatly increased risk of breast cancer. | 0.017806881 | 2014 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17817449 | 25862352 | 1879 | EBF1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.120271442 | 2015 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 25862352 | 100422922 | MIR1972-2 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.000271442 | 2015 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23535733 | 79068 | FTO | umls:C0006142 | GWASCAT | SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). | 0.121900093 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 25862352 | 79068 | FTO | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.121900093 | 2015 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23535729 | 79068 | FTO | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.121900093 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 25862352 | 2099 | ESR1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.24 | 2015 | FTO | 16 | 53779455 | T | G |
| rs17817449 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | FTO | 16 | 53779455 | T | G |
| rs17822931 | 21423094 | 2099 | ESR1 | umls:C0006142 | BeFree | To investigate the expression of ABCC11 (MRP8) protein in normal breast tissue, and examine the difference in ABCC11 mRNA and protein expression between normal breast and breast cancer tissues taking into account ABCC11 genotype (a functional SNP, rs17822931) and estrogen receptor (ER) status. | 0.24 | 2011 | ABCC11 | 16 | 48224287 | C | T |
| rs1799724 | 23991131 | 6374 | CXCL5 | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.000814326 | 2013 | LTA;TNF | 6 | 31574705 | C | T |
| rs1799724 | 23991131 | 140913 | PPIAP10 | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.000542884 | 2013 | LTA;TNF | 6 | 31574705 | C | T |
| rs1799724 | 23991131 | 7124 | TNF | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.070293647 | 2013 | LTA;TNF | 6 | 31574705 | C | T |
| rs1799782 | 12496039 | 675 | BRCA2 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.48 | 2002 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 12496039 | 7515 | XRCC1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.098186605 | 2002 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 16319991 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.098186605 | 2006 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 25340946 | 7517 | XRCC3 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.084507108 | 2015 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 14652281 | 7515 | XRCC1 | umls:C0006142 | BeFree | In addition, breast cancer risk was significantly associated with an increasing number of combined variant alleles of XRCC1 Arg194Trp, XRCC3 Thr241Met, and ERCC4/XPF Arg415Gln in a four-level model (P(trend) = 0.04): OR = 1.0 for those without a variant allele (referent group); OR = 1.04 (95% CI = 0.67-1.61) for those with one variant allele; OR = 1.38 (95% CI = 0.83-2.29) for those with two variant alleles; and age-adjusted OR = 2.60 (95% CI = 1.03-6.59) for those with three or more variant alleles after adjustment for age, family history, age at menarche, age at first live birth, and body mass index. | 0.098186605 | 2003 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 25340946 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.098186605 | 2015 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 16319991 | 2068 | ERCC2 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.083616838 | 2006 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 25862854 | 7515 | XRCC1 | umls:C0006142 | BeFree | The present study aimed to investigate the association between Arg194Trp (XRCC1), Ala222Val (MTHFR) and Arg521Lys (EGFR) polymorphisms (SNPs) and their susceptibility to gastric and breast carcinoma cancer in patients from Brazilian Amazon, controlling population structure interference. | 0.098186605 | 2015 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18669164 | 328 | APEX1 | umls:C0006142 | BeFree | The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved in contributing towards breast cancer susceptibility, while rs1799782 (XRCC1) might have protective influence. | 0.018816704 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 19465687 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | 0.098186605 | 2009 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18669164 | 7515 | XRCC1 | umls:C0006142 | BeFree | The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved in contributing towards breast cancer susceptibility, while rs1799782 (XRCC1) might have protective influence. | 0.098186605 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 12496039 | 4968 | OGG1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.026189242 | 2002 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 23103366 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer. | 0.098186605 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 16492928 | 7515 | XRCC1 | umls:C0006142 | BeFree | Meta-analyses based on our data and published data from studies of two single nucleotide polymorphisms in XRCC1 showed no evidence of an overall association between breast cancer risk and homozygous variants versus wild-type for Q399R (OR, 1.1; 95% CI, 1.0-1.2) or R194W (OR, 1.0; 95% CI, 0.7-1.8), although there was a suggestion for an association in Asian populations for Q399R (OR, 1.6; 95% CI, 1.1-2.4; P = 0.02). | 0.098186605 | 2006 | XRCC1 | 19 | 43553422 | G | A |
| rs1799793 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 20127278 | 2068 | ERCC2 | umls:C0006142 | BeFree | The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involving 22,766 subjects. | 0.083616838 | 2010 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 21793320 | 2068 | ERCC2 | umls:C0006142 | BeFree | Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients. | 0.083616838 | 2010 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 20379847 | 2068 | ERCC2 | umls:C0006142 | BeFree | Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. | 0.083616838 | 2010 | ERCC2 | 19 | 45364001 | C | T |
| rs1799794 | 24933103 | 7515 | XRCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.098186605 | 2014 | XRCC3 | 14 | 103712930 | T | C |
| rs1799794 | 24933103 | 7517 | XRCC3 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.084507108 | 2014 | XRCC3 | 14 | 103712930 | T | C |
| rs1799794 | 24933103 | 2067 | ERCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.017806881 | 2014 | XRCC3 | 14 | 103712930 | T | C |
| rs1799794 | 24933103 | 2068 | ERCC2 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.083616838 | 2014 | XRCC3 | 14 | 103712930 | T | C |
| rs1799794 | 24933103 | 672 | BRCA1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.36 | 2014 | XRCC3 | 14 | 103712930 | T | C |
| rs1799794 | 24933103 | 5243 | ABCB1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.096710723 | 2014 | XRCC3 | 14 | 103712930 | T | C |
| rs1799801 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | ERCC4 | 16 | 13948101 | T | C |
| rs1799801 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | ERCC4 | 16 | 13948101 | T | C |
| rs1799801 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | ERCC4 | 16 | 13948101 | T | C |
| rs1799930 | 20180013 | 4552 | MTRR | umls:C0006142 | BeFree | A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44). | 0.016916611 | 2010 | NAT2 | 8 | 18400593 | G | A |
| rs1799930 | 20180013 | 81539 | SLC38A1 | umls:C0006142 | BeFree | A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44). | 0.006786047 | 2010 | NAT2 | 8 | 18400593 | G | A |
| rs1799945 | 16503999 | 3077 | HFE | umls:C0006142 | BeFree | HFE H63D mutation frequency shows an increase in Turkish women with breast cancer. | 0.009544073 | 2006 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 21243428 | 3077 | HFE | umls:C0006142 | BeFree | These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases. | 0.009544073 | 2011 | HFE | 6 | 26090951 | C | G |
| rs1799950 | 18288416 | 672 | BRCA1 | umls:C0006142 | BeFree | Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associations with breast cancer risk. | 0.36 | 2008 | BRCA1 | 17 | 43094464 | T | C |
| rs1799950 | 11836613 | 672 | BRCA1 | umls:C0006142 | BeFree | Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. | 0.36 | 2002 | BRCA1 | 17 | 43094464 | T | C |
| rs1799950 | 11836613 | 675 | BRCA2 | umls:C0006142 | BeFree | Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the two BRCA1 mutations, Q356R and S1512I, may be related to the breast cancer phenotype. | 0.48 | 2002 | BRCA1 | 17 | 43094464 | T | C |
| rs1799966 | 24933103 | 7515 | XRCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.098186605 | 2014 | BRCA1 | 17 | 43071077 | T | C,A |
| rs1799966 | 24933103 | 672 | BRCA1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.36 | 2014 | BRCA1 | 17 | 43071077 | T | C,A |
| rs1799966 | 24933103 | 2067 | ERCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.017806881 | 2014 | BRCA1 | 17 | 43071077 | T | C,A |
| rs1799966 | 24933103 | 2068 | ERCC2 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.083616838 | 2014 | BRCA1 | 17 | 43071077 | T | C,A |
| rs1799966 | 24933103 | 7517 | XRCC3 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.084507108 | 2014 | BRCA1 | 17 | 43071077 | T | C,A |
| rs1799966 | 24933103 | 5243 | ABCB1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.096710723 | 2014 | BRCA1 | 17 | 43071077 | T | C,A |
| rs1799971 | 22433205 | 4988 | OPRM1 | umls:C0006142 | BeFree | μ-Opioid receptor gene A118G polymorphism predicts survival in patients with breast cancer. | 0.001628651 | 2012 | OPRM1 | 6 | 154039662 | A | G |
| rs1799977 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 23755158 | 26015 | RPAP1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.000271442 | 2013 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 23755158 | 328 | APEX1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.018816704 | 2013 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 23755158 | 4292 | MLH1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.022345448 | 2013 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 23755158 | 4193 | MDM2 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.05931642 | 2013 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799983 | 17063466 | 4846 | NOS3 | umls:C0006142 | BeFree | In the current hospital-based case-control study of 421 non-Hispanic white women with sporadic breast cancer and 423 frequency-matched control subjects, we genotyped 3 polymorphisms of eNOS (i.e., -786T>C, the 27-base pair [bp] variable number of tandem repeats [VNTR] in intron 4, and 894G>T [Glu298Asp]) and assessed their associations with risk of breast cancer. | 0.033290337 | 2006 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 16807677 | 4846 | NOS3 | umls:C0006142 | BeFree | Lack of association between NOS3 Glu298Asp and breast cancer risk: a case-control study. | 0.033290337 | 2006 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 20204503 | 4846 | NOS3 | umls:C0006142 | BeFree | In conclusion, this meta-analysis suggests that both eNOS E298D and -786T>C polymorphisms are associated with reduced breast cancer risk. | 0.033290337 | 2010 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 25040995 | 4846 | NOS3 | umls:C0006142 | BeFree | This meta-analysis indicated that the eNOS T-786C polymorphism is associated with elevated cancer risk; the G894T polymorphism contributes to susceptibility to breast cancer and cancer generally in females; and the 4a/b polymorphism may be associated with prostate cancer risk. | 0.033290337 | 2015 | NOS3 | 7 | 150999023 | T | G |
| rs1800054 | 15042666 | 472 | ATM | umls:C0006142 | BeFree | A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls. | 0.127502328 | 2004 | ATM | 11 | 108227849 | C | G,T |
| rs1800054 | 16652348 | 472 | ATM | umls:C0006142 | BeFree | The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. | 0.127502328 | 2006 | ATM | 11 | 108227849 | C | G,T |
| rs1800057 | 12473176 | 472 | ATM | umls:C0006142 | BeFree | No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. | 0.127502328 | 2002 | ATM | 11 | 108272729 | C | G |
| rs1800067 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 24465539 | 2072 | ERCC4 | umls:C0006142 | BeFree | To investigate whether monoallelic ERCC4 gene defects play some role in the inherited component of breast cancer susceptibility, we sequenced the whole ERCC4 coding region and flanking untranslated portions in a series of 101 Byelorussian and German breast cancer patients selected for familial disease (set 1, n = 63) or for the presence of the rs1800067 risk haplotype (set 2, n = 38). | 0.031933128 | 2013 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 21424776 | 2073 | ERCC5 | umls:C0006142 | BeFree | Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. | 0.018740759 | 2011 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 21424776 | 2072 | ERCC4 | umls:C0006142 | BeFree | Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. | 0.031933128 | 2011 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18767034 | 2074 | ERCC6 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.00973957 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18767034 | 2072 | ERCC4 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.031933128 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC4 | 16 | 13935176 | G | A |
| rs1800124 | 18767034 | 2074 | ERCC6 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.00973957 | 2008 | ERCC4 | 16 | 13948220 | A | G |
| rs1800124 | 18767034 | 2072 | ERCC4 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.031933128 | 2008 | ERCC4 | 16 | 13948220 | A | G |
| rs1800440 | 22418777 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and within CYP17A1 (rs743572; p (het) = 0.009) in which never users of HT were at a decreased risk of breast cancer, while ever users were at a non-significant increased risk. | 0.096829396 | 2012 | CYP1B1 | 2 | 38070996 | T | G,C |
| rs1800440 | 22418777 | 1586 | CYP17A1 | umls:C0006142 | BeFree | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and within CYP17A1 (rs743572; p (het) = 0.009) in which never users of HT were at a decreased risk of breast cancer, while ever users were at a non-significant increased risk. | 0.096829396 | 2012 | CYP1B1 | 2 | 38070996 | T | G,C |
| rs1800469 | 23996684 | 3566 | IL4R | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.005276948 | 2013 | TGFB1;B9D2 | 19 | 41354391 | A | G |
| rs1800469 | 23996684 | 3460 | IFNGR2 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | TGFB1;B9D2 | 19 | 41354391 | A | G |
| rs1800469 | 23996684 | 7040 | TGFB1 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.09001189 | 2013 | TGFB1;B9D2 | 19 | 41354391 | A | G |
| rs1800469 | 23996684 | 3601 | IL15RA | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | TGFB1;B9D2 | 19 | 41354391 | A | G |
| rs1800470 | 23887657 | 7040 | TGFB1 | umls:C0006142 | BeFree | The L10P polymorphism and serum levels of transforming growth factor β1 in human breast cancer. | 0.09001189 | 2013 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800470 | 18523885 | 675 | BRCA2 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.48 | 2009 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800470 | 18523885 | 672 | BRCA1 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.36 | 2009 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800470 | 20349130 | 7040 | TGFB1 | umls:C0006142 | BeFree | Transforming growth factorβ1 L10P variant plays an active role on the breast cancer susceptibility in Caucasian: evidence from 10,392 cases and 11,697 controls. | 0.09001189 | 2010 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800470 | 20143152 | 7040 | TGFB1 | umls:C0006142 | BeFree | TGFB1 L10P polymorphism is associated with breast cancer susceptibility: evidence from a meta-analysis involving 47,817 subjects. | 0.09001189 | 2010 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800470 | 17018785 | 7040 | TGFB1 | umls:C0006142 | BeFree | For five SNPs--CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P--the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively). | 0.09001189 | 2006 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800470 | 18523885 | 7040 | TGFB1 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.09001189 | 2009 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800562 | 21243428 | 3077 | HFE | umls:C0006142 | BeFree | These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases. | 0.009544073 | 2011 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23281741 | 3077 | HFE | umls:C0006142 | BeFree | In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of colorectal cancer and breast cancer. | 0.009544073 | 2013 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23681799 | 3077 | HFE | umls:C0006142 | BeFree | C282Y polymorphism in the HFE gene is associated with risk of breast cancer. | 0.009544073 | 2013 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 20099304 | 3077 | HFE | umls:C0006142 | BeFree | HFE C282Y homozygotes have twice the risk of colorectal and breast cancer compared with those individuals without the C282Y variant. | 0.009544073 | 2010 | HFE | 6 | 26092913 | G | A |
| rs1800566 | 15138483 | 7157 | TP53 | umls:C0006142 | BeFree | Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. | 0.24 | 2004 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 21329464 | 1544 | CYP1A2 | umls:C0006142 | BeFree | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenylalanine21leucine (C63G) polymorphisms do not play a significant role in breast cancer susceptibility in North Indian women. | 0.029913483 | 2011 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 24884893 | 1728 | NQO1 | umls:C0006142 | BeFree | The NQO1 Pro187Ser polymorphism and breast cancer susceptibility: evidence from an updated meta-analysis. | 0.035733314 | 2014 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 18511948 | 1728 | NQO1 | umls:C0006142 | BeFree | NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer. | 0.035733314 | 2008 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 21329464 | 1728 | NQO1 | umls:C0006142 | BeFree | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenylalanine21leucine (C63G) polymorphisms do not play a significant role in breast cancer susceptibility in North Indian women. | 0.035733314 | 2011 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 18511948 | 1429 | CRYZ | umls:C0006142 | BeFree | NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer. | 0.001357209 | 2008 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 20526805 | 1728 | NQO1 | umls:C0006142 | BeFree | Evidence on the association between NQO1 Pro187Ser polymorphism and breast cancer risk in the current studies: a meta-analysis. | 0.035733314 | 2011 | NQO1 | 16 | 69711242 | G | A |
| rs1800629 | 25559835 | 4792 | NFKBIA | umls:C0006142 | BeFree | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. | 0.003181358 | 2015 | TNF | 6 | 31575254 | G | A |
| rs1800744 | 11836613 | 675 | BRCA2 | umls:C0006142 | BeFree | Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the two BRCA1 mutations, Q356R and S1512I, may be related to the breast cancer phenotype. | 0.48 | 2002 | BRCA1 | 17 | 43074471 | C | A |
| rs1800744 | 11836613 | 672 | BRCA1 | umls:C0006142 | BeFree | Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. | 0.36 | 2002 | BRCA1 | 17 | 43074471 | C | A |
| rs1800795 | 19435922 | 3569 | IL6 | umls:C0006142 | GAD | [Host genetic variants in the interleukin-6 promoter predict poor outcome in patients with estrogen receptor-positive, node-positive breast cancer.] | 0.06649346 | 2009 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800795 | 18239642 | 1154 | CISH | umls:C0006142 | BeFree | Among women without recent hormone exposure, those with a WHR >0.9 and the rs1800795 GG genotype had a greater than threefold increased risk of breast cancer (odds ratios (ORs) 3.22, 95% confidence intervals (CIs) 1.27, 817) when compared with women with a WHR <0.8 and the rs1800795 GG genotype (P interaction 0.01). | 0.003257302 | 2008 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800871 | 25559835 | 4792 | NFKBIA | umls:C0006142 | BeFree | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. | 0.003181358 | 2015 | IL10 | 1 | 206773289 | A | G |
| rs1800871 | 24720854 | 3586 | IL10 | umls:C0006142 | BeFree | Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk: evidence from an updated meta-analysis. | 0.035190431 | 2015 | IL10 | 1 | 206773289 | A | G |
| rs1800872 | 24720854 | 3586 | IL10 | umls:C0006142 | BeFree | Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk: evidence from an updated meta-analysis. | 0.035190431 | 2015 | IL10 | 1 | 206773062 | T | G |
| rs1800896 | 24720854 | 3586 | IL10 | umls:C0006142 | BeFree | Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk: evidence from an updated meta-analysis. | 0.035190431 | 2015 | IL10 | 1 | 206773552 | T | C |
| rs1800975 | 21751184 | 2068 | ERCC2 | umls:C0006142 | BeFree | Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively). | 0.083616838 | 2012 | XPA | 9 | 97697296 | T | G,C |
| rs1800975 | 24642895 | 7515 | XRCC1 | umls:C0006142 | BeFree | Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both independent and interactive effects on the development of breast cancer among northern Chinese women. | 0.098186605 | 2014 | XPA | 9 | 97697296 | T | G,C |
| rs1800975 | 24642895 | 7507 | XPA | umls:C0006142 | BeFree | Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both independent and interactive effects on the development of breast cancer among northern Chinese women. | 0.00554839 | 2014 | XPA | 9 | 97697296 | T | G,C |
| rs1800975 | 21751184 | 7507 | XPA | umls:C0006142 | BeFree | Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively). | 0.00554839 | 2012 | XPA | 9 | 97697296 | T | G,C |
| rs1801131 | 24945727 | 4524 | MTHFR | umls:C0006142 | BeFree | Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. | 0.100901024 | 2013 | MTHFR | 1 | 11794419 | T | G |
| rs1801132 | 25228414 | 2099 | ESR1 | umls:C0006142 | BeFree | When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations in ER-positive than in ER-negative breast cancer in only EA women. | 0.24 | 2015 | ESR1 | 6 | 151944387 | G | C |
| rs1801133 | 23217001 | 4524 | MTHFR | umls:C0006142 | BeFree | Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies. | 0.100901024 | 2012 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 24945727 | 4524 | MTHFR | umls:C0006142 | BeFree | Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. | 0.100901024 | 2013 | MTHFR | 1 | 11796321 | G | A |
| rs1801155 | 9679946 | 324 | APC | umls:C0006142 | BeFree | The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer. | 0.091867498 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10555757 | 324 | APC | umls:C0006142 | BeFree | The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of breast cancer. | 0.091867498 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801157 | 21592819 | 6387 | CXCL12 | umls:C0006142 | BeFree | CXCL12 rs1801157 polymorphism and expression in peripheral blood from breast cancer patients. | 0.023583105 | 2011 | CXCL12 | 10 | 44372809 | C | T |
| rs1801157 | 19927352 | 6387 | CXCL12 | umls:C0006142 | BeFree | CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's lymphoma. | 0.023583105 | 2009 | CXCL12 | 10 | 44372809 | C | T |
| rs1801157 | 19196101 | 7852 | CXCR4 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.028968335 | 2009 | CXCL12 | 10 | 44372809 | C | T |
| rs1801157 | 19927352 | 7852 | CXCR4 | umls:C0006142 | BeFree | The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-derived factor-1 (SDF1)-3'A) in CXCL12/SDF1 gene was assessed in breast cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL), since the chemokine CXCL12, previously known as SDF1, and its receptor CXCR4 regulate leukocyte trafficking and many essential biological processes, including tumor growth, angiogenesis, and metastasis of different types of tumors. | 0.028968335 | 2009 | CXCL12 | 10 | 44372809 | C | T |
| rs1801157 | 19196101 | 1236 | CCR7 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.006167218 | 2009 | CXCL12 | 10 | 44372809 | C | T |
| rs1801157 | 19196101 | 7422 | VEGFA | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.105385593 | 2009 | CXCL12 | 10 | 44372809 | C | T |
| rs1801195 | 19205873 | 672 | BRCA1 | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.36 | 2009 | WRN | 8 | 31141764 | G | T |
| rs1801195 | 19205873 | 641 | BLM | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.010086957 | 2009 | WRN | 8 | 31141764 | G | T |
| rs1801200 | 17687647 | 472 | ATM | umls:C0006142 | BeFree | A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembrane domain-coding region of human ERBB2 gene has been previously evaluated for its association with breast cancer risk with mixed results. | 0.127502328 | 2008 | NA | NA | NA | NA | NA |
| rs1801201 | 18090908 | 2064 | ERBB2 | umls:C0006142 | BeFree | Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial growth factor receptor 2 (HER-2) gene and susceptibility to breast cancer have been reported for almost all ethnic populations, with both positive or negative conclusions. | 0.24 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 14578152 | 2064 | ERBB2 | umls:C0006142 | BeFree | The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years. | 0.24 | 2003 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 15970791 | 2064 | ERBB2 | umls:C0006142 | BeFree | The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. | 0.24 | 2005 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 23086302 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | 0.24 | 2013 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 23594562 | 1956 | EGFR | umls:C0006142 | BeFree | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | 0.10367032 | 2013 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 16416013 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-control study in Slovakia. | 0.24 | 2006 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 24608202 | 2064 | ERBB2 | umls:C0006142 | BeFree | Association between the HER2 Ile655Val polymorphism and response to trastuzumab in women with operable primary breast cancer. | 0.24 | 2015 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 18058229 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.24 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 21474413 | 2064 | ERBB2 | umls:C0006142 | BeFree | Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a systematic review and meta-analysis. | 0.24 | 2011 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 17687647 | 472 | ATM | umls:C0006142 | BeFree | A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembrane domain-coding region of human ERBB2 gene has been previously evaluated for its association with breast cancer risk with mixed results. | 0.127502328 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 11857355 | 2064 | ERBB2 | umls:C0006142 | BeFree | Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 and susceptibility to breast cancer. | 0.24 | 2002 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 23594562 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | 0.24 | 2013 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 18058229 | 2950 | GSTP1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.099000931 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 23086302 | 5728 | PTEN | umls:C0006142 | BeFree | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | 0.050651348 | 2013 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 18058229 | 2944 | GSTM1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.101986792 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 18837888 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER-2/neu Ile655Val polymorphism and the risk of breast cancer. | 0.24 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 17452776 | 2064 | ERBB2 | umls:C0006142 | BeFree | One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. | 0.24 | 2007 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 20401632 | 2064 | ERBB2 | umls:C0006142 | BeFree | HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies. | 0.24 | 2010 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 14569185 | 2064 | ERBB2 | umls:C0006142 | BeFree | The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. | 0.24 | 2003 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 15374636 | 2064 | ERBB2 | umls:C0006142 | BeFree | Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women. | 0.24 | 2004 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 18058229 | 2952 | GSTT1 | umls:C0006142 | BeFree | A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Polymorphisms (SNP's) in GSTM1 (Present/Null); GSTP1 (Ile105Val), p53 (Arg72Pro), TGFbeta1 (Leu10Pro), c-erbB2 (Ile655Val), and GSTT1 (Null/Present) in breast cancer. | 0.09601507 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 14569185 | 672 | BRCA1 | umls:C0006142 | BeFree | Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mutation carriers, although these results are based on small numbers. | 0.36 | 2003 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801201 | 18062925 | 2064 | ERBB2 | umls:C0006142 | BeFree | A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. | 0.24 | 2008 | ERBB2 | 17 | 39723332 | A | C,G |
| rs1801275 | 23996684 | 3460 | IFNGR2 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | IL4R | 16 | 27363079 | A | G |
| rs1801275 | 23996684 | 3601 | IL15RA | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | IL4R | 16 | 27363079 | A | G |
| rs1801275 | 23996684 | 7040 | TGFB1 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.09001189 | 2013 | IL4R | 16 | 27363079 | A | G |
| rs1801275 | 23996684 | 3566 | IL4R | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.005276948 | 2013 | IL4R | 16 | 27363079 | A | G |
| rs1801278 | 22729394 | 3667 | IRS1 | umls:C0006142 | BeFree | The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. | 0.019240035 | 2012 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 22729394 | 672 | BRCA1 | umls:C0006142 | BeFree | The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. | 0.36 | 2012 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 16752222 | 3667 | IRS1 | umls:C0006142 | BeFree | An association between a common variant (G972R) in the IRS-1 gene and sex hormone levels in post-menopausal breast cancer survivors. | 0.019240035 | 2006 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 22729394 | 3630 | INS | umls:C0006142 | BeFree | The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. | 0.046612057 | 2012 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 22729394 | 675 | BRCA2 | umls:C0006142 | BeFree | The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. | 0.48 | 2012 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801282 | 17348446 | 5468 | PPARG | umls:C0006142 | BeFree | A marginally significant increased risk of breast cancer was observed among women homozygous for the Ala allele of PPARgamma Pro12Ala. | 0.022573283 | 2007 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 24141935 | 5465 | PPARA | umls:C0006142 | BeFree | This meta-analysis supported the fact that the G allele of PPAR‑γ2 Pro12Ala (rs1801282) modestly affects the risk of breast cancer. | 0.005624334 | 2013 | PPARG | 3 | 12351626 | C | G |
| rs1801320 | 20461453 | 675 | BRCA2 | umls:C0006142 | BeFree | A single-nucleotide polymorphism (SNP) in the 5'-untranslated region (UTR) of RAD51, 135G>C (rs1801320), was reported to be associated with an increased risk of breast cancer among BRCA2 as well as BRCA1 carriers. | 0.48 | 2011 | RAD51;RAD51-AS1 | 15 | 40695330 | G | C |
| rs1801320 | 20054644 | 5888 | RAD51 | umls:C0006142 | GAD | [We also analyzed the effect of combined genotypes among RAD51-135G>C, Thr241Met, and E233G polymorphisms on BC risk.] | 0.215831722 | 2010 | RAD51;RAD51-AS1 | 15 | 40695330 | G | C |
| rs1801394 | 18842997 | 4552 | MTRR | umls:C0006142 | BeFree | Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A1793G) did not differ among the study groups; however, MDI tended to be higher in BRCA carriers with breast cancer than those without and was significantly increased in MTHFR 677T allele carriers relative to wild-type carriers (P=0.017). | 0.016916611 | 2008 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 20411324 | 4552 | MTRR | umls:C0006142 | BeFree | MTRR A66G polymorphism and breast cancer risk: a meta-analysis. | 0.016916611 | 2010 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 21987236 | 4552 | MTRR | umls:C0006142 | BeFree | MTRR A66G and cSHMT C1420T polymorphisms influence CIMP phenotype of BNIP3, thus epigenetically regulating BNIP3 in breast cancer. | 0.016916611 | 2012 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801516 | 20799949 | 472 | ATM | umls:C0006142 | BeFree | The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis. | 0.127502328 | 2010 | ATM | 11 | 108304735 | G | A |
| rs1801516 | 20396981 | 472 | ATM | umls:C0006142 | BeFree | Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer. | 0.127502328 | 2011 | ATM | 11 | 108304735 | G | A |
| rs1801516 | 18264724 | 472 | ATM | umls:C0006142 | BeFree | Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer. | 0.127502328 | 2008 | ATM | 11 | 108304735 | G | A |
| rs1801516 | 16338099 | 472 | ATM | umls:C0006142 | BeFree | The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis in breast cancer patients treated with radiotherapy. | 0.127502328 | 2006 | ATM | 11 | 108304735 | G | A |
| rs180177102 | 23941127 | 79728 | PALB2 | umls:C0006142 | BeFree | Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families. | 0.062573722 | 2013 | PALB2 | 16 | 23634954 | A | - |
| rs180177102 | 18628482 | 79728 | PALB2 | umls:C0006142 | BeFree | Our results suggest that it may be appropriate to offer PALB2 c.1592delT mutation testing to Finnish women with breast cancer, especially those with an early age at onset or a family history of breast or related cancers, and to offer carriers the option of participation in extended disease surveillance programs. | 0.062573722 | 2008 | PALB2 | 16 | 23634954 | A | - |
| rs180177111 | 23302520 | 672 | BRCA1 | umls:C0006142 | BeFree | We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. | 0.36 | 2013 | PALB2 | 16 | 23629831 | G | A |
| rs180177111 | 23302520 | 79728 | PALB2 | umls:C0006142 | BeFree | We identified a PALB2 p.Q775X carrier in a breast cancer family, who had invasive ductal breast carcinomas at 39 and 42 years of age. | 0.062573722 | 2013 | PALB2 | 16 | 23629831 | G | A |
| rs180177111 | 21947752 | 79728 | PALB2 | umls:C0006142 | BeFree | One c.9004G>A carrier also harbored the PALB2 c.2323C>T (Q775X) mutation found to recur in French Canadian breast cancer cases. | 0.062573722 | 2012 | PALB2 | 16 | 23629831 | G | A |
| rs180177111 | 23302520 | 675 | BRCA2 | umls:C0006142 | BeFree | We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. | 0.48 | 2013 | PALB2 | 16 | 23629831 | G | A |
| rs1805076 | 16276521 | 5524 | PPP2R4 | umls:C0006142 | BeFree | The glycine 90 to aspartate alteration in the Abeta subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein function. | 0.003800186 | 2006 | PPP2R1B | 11 | 111764842 | C | T |
| rs1805076 | 16276521 | 5519 | PPP2R1B | umls:C0006142 | BeFree | The glycine 90 to aspartate alteration in the Abeta subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein function. | 0.003181358 | 2006 | PPP2R1B | 11 | 111764842 | C | T |
| rs1805087 | 19240236 | 5914 | RARA | umls:C0006142 | BeFree | We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G polymorphisms for cases strata-defined by promoter methylation status for each of three genes, E-cadherin, p16, and RAR-beta2 in breast cancer; in addition, we evaluated case-case comparisons of the likelihood of promoter methylation in relation to genotypes using a population-based case-control study conducted in Western New York State. | 0.009229024 | 2009 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 19240236 | 10966 | RAB40B | umls:C0006142 | BeFree | We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G polymorphisms for cases strata-defined by promoter methylation status for each of three genes, E-cadherin, p16, and RAR-beta2 in breast cancer; in addition, we evaluated case-case comparisons of the likelihood of promoter methylation in relation to genotypes using a population-based case-control study conducted in Western New York State. | 0.002714419 | 2009 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 23155246 | 4548 | MTR | umls:C0006142 | BeFree | Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a population in Northeast Brazil. | 0.028284832 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 23155246 | 4524 | MTHFR | umls:C0006142 | BeFree | Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a population in Northeast Brazil. | 0.100901024 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17896178 | 4524 | MTHFR | umls:C0006142 | BeFree | Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. | 0.100901024 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18842997 | 4524 | MTHFR | umls:C0006142 | BeFree | The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated with increased breast cancer risk [odds ration, 3.2 (P=0.16; 95% confidence interval, 0.76-13.9) and 3.9 (P=0.09; 95% confidence interval, 0.93-16.3), respectively]. | 0.100901024 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18842997 | 4548 | MTR | umls:C0006142 | BeFree | The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated with increased breast cancer risk [odds ration, 3.2 (P=0.16; 95% confidence interval, 0.76-13.9) and 3.9 (P=0.09; 95% confidence interval, 0.93-16.3), respectively]. | 0.028284832 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 20111902 | 4548 | MTR | umls:C0006142 | BeFree | Methionine synthase A2756G polymorphism and breast cancer risk: a meta-analysis involving 18,953 subjects. | 0.028284832 | 2010 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 23845785 | 4548 | MTR | umls:C0006142 | BeFree | Methionine synthase A2756G polymorphism and breast cancer risk: an up-to-date meta-analysis. | 0.028284832 | 2013 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17896178 | 4548 | MTR | umls:C0006142 | BeFree | Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. | 0.028284832 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17311260 | 4548 | MTR | umls:C0006142 | BeFree | Data suggested an association between a nonsynonymous change in the gene coding for methionine synthase (MTR D919G) and reduced breast cancer risk: OR (95% CI) = 0.84 (0.73-0.96) and 0.85 (0.62-1.15) for heterozygous and homozygote variant genotypes, respectively, compared with common homozygotes; p-trend = 0.01, false discovery rate = 0.14. | 0.028284832 | 2007 | MTR | 1 | 236885200 | A | G |
| rs1805097 | 24497996 | 3643 | INSR | umls:C0006142 | BeFree | Lack of association between insulin receptor substrate2 rs1805097 polymorphism and the risk of colorectal and breast cancer: a meta-analysis. | 0.010705785 | 2013 | IRS2 | 13 | 109782884 | C | T |
| rs1805192 | 17348446 | 5468 | PPARG | umls:C0006142 | BeFree | A marginally significant increased risk of breast cancer was observed among women homozygous for the Ala allele of PPARgamma Pro12Ala. | 0.022573283 | 2007 | PPARG | 3 | 12379739 | C | G |
| rs1805373 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | OGG1 | 3 | 9754824 | G | A |
| rs1805373 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | OGG1 | 3 | 9754824 | G | A |
| rs1805373 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | OGG1 | 3 | 9754824 | G | A |
| rs1805377 | 24062231 | 7518 | XRCC4 | umls:C0006142 | BeFree | Genotypes in XRCC4 were associated with BC risk, with ORs of 1.67 (95 % CI 1.01-2.76) for the combined GA/AA of rs1805377 and 1.69 (95 % CI 1.03-2.77) for rs1056503 TG/GG; these associations were no longer statistically significant in multivariable conditional logistic regression models. | 0.016916611 | 2013 | XRCC4 | 5 | 83353124 | G | A |
| rs1805414 | 23803078 | 142 | PARP1 | umls:C0006142 | BeFree | The C allele of a synonymous SNP (rs1805414, Ala284Ala) in PARP1 is a risk factor for susceptibility to breast cancer in Saudi patients. | 0.027339684 | 2014 | PARP1 | 1 | 226385663 | A | G |
| rs1805794 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 23381647 | 4683 | NBN | umls:C0006142 | BeFree | Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis. | 0.193953213 | 2013 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 23381647 | 55655 | NLRP2 | umls:C0006142 | BeFree | The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G>C, rs1805794) polymorphism has been indicated to be involved in the development of cancer, but results of previous individual studies on the association between NBS1 Glu185Gln polymorphism and breast cancer risk remain controversial and inconclusive. | 0.007871814 | 2013 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 16002061 | 4683 | NBN | umls:C0006142 | BeFree | For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable difference for genotype distributions and allele frequencies was observed between BC group and control group in the study. | 0.193953213 | 2005 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 16214912 | 4683 | NBN | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.193953213 | 2005 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 16214912 | 7517 | XRCC3 | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.084507108 | 2005 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 16214912 | 7516 | XRCC2 | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.036200253 | 2005 | NBN | 8 | 89978251 | C | G |
| rs1805794 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | NBN | 8 | 89978251 | C | G |
| rs1820453 | 24223879 | 10413 | YAP1 | umls:C0006142 | BeFree | A functional variant rs1820453 in YAP1 and breast cancer risk in Chinese population. | 0.001900093 | 2013 | YAP1 | 11 | 102109604 | C | A |
| rs183557525 | 24695549 | 672 | BRCA1 | umls:C0006142 | BeFree | The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer. | 0.36 | 2014 | BRCA1 | 17 | 43115753 | G | T |
| rs1844925 | 25029565 | 344805 | TMPRSS7 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000271442 | 2014 | TMPRSS7 | 3 | 112041632 | A | G |
| rs1844925 | 25029565 | 3082 | HGF | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.091053172 | 2014 | TMPRSS7 | 3 | 112041632 | A | G |
| rs1844925 | 25029565 | 56649 | TMPRSS4 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000814326 | 2014 | TMPRSS7 | 3 | 112041632 | A | G |
| rs185070757 | 24521023 | 406938 | MIR146A | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.008262808 | 2014 | MIR196A2 | 12 | 53991774 | T | G |
| rs185070757 | 24521023 | 5018 | OXA1L | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.003257302 | 2014 | MIR196A2 | 12 | 53991774 | T | G |
| rs1864112 | 24325915 | 2099 | ESR1 | umls:C0006142 | BeFree | Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. | 0.24 | 2014 | GTPBP3 | 19 | 17338152 | A | C |
| rs1876206 | 17903305 | 2200 | FBN1 | umls:C0006142 | GAD | [A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.] | 0.002638474 | 2007 | FBN1 | 15 | 48608389 | T | C |
| rs188554751 | 19205873 | 672 | BRCA1 | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.36 | 2009 | WRN | 8 | 31120403 | C | T |
| rs188554751 | 19205873 | 641 | BLM | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.010086957 | 2009 | WRN | 8 | 31120403 | C | T |
| rs188957694 | 16166291 | 2099 | ESR1 | umls:C0006142 | BeFree | The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered. | 0.24 | 2005 | ESR1 | 6 | 151944218 | G | A |
| rs1926657 | 17903305 | 10257 | ABCC4 | umls:C0006142 | GAD | [A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.] | 0.005005506 | 2007 | ABCC4 | 13 | 95222702 | T | C |
| rs193466 | 24510587 | 3035 | HARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | RARS | 5 | 168486598 | C | T |
| rs193466 | 24510587 | 5917 | RARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | RARS | 5 | 168486598 | C | T |
| rs193466 | 24510587 | 7453 | WARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | RARS | 5 | 168486598 | C | T |
| rs193466 | 24510587 | 16 | AARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | RARS | 5 | 168486598 | C | T |
| rs1946518 | 22980562 | 3606 | IL18 | umls:C0006142 | BeFree | Association of -607 C/A polymorphism of IL-18 gene (rs1946518) with breast cancer risk in Zahedan, Southeast Iran. | 0.004810009 | 2012 | IL18 | 11 | 112164735 | T | G |
| rs1979277 | 24789272 | 6470 | SHMT1 | umls:C0006142 | BeFree | However, we found evidence for association of SHMT1 C1420T polymorphism with significantly reduced risk of breast cancer in Asians. | 0.008458305 | 2014 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 22134752 | 6470 | SHMT1 | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.008458305 | 2012 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 22134752 | 4524 | MTHFR | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.100901024 | 2012 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 22134752 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.005624334 | 2012 | SHMT1 | 17 | 18328782 | G | A |
| rs1982073 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | NA | NA | NA | NA | NA |
| rs1982073 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | NA | NA | NA | NA | NA |
| rs1982073 | 20640597 | 7040 | TGFB1 | umls:C0006142 | BeFree | Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. | 0.09001189 | 2011 | NA | NA | NA | NA | NA |
| rs1982073 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | NA | NA | NA | NA | NA |
| rs1982073 | 20640597 | 2263 | FGFR2 | umls:C0006142 | BeFree | Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. | 0.229599312 | 2011 | NA | NA | NA | NA | NA |
| rs1982073 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | NA | NA | NA | NA | NA |
| rs1982073 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | NA | NA | NA | NA | NA |
| rs1982073 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | NA | NA | NA | NA | NA |
| rs1982073 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | NA | NA | NA | NA | NA |
| rs1991401 | 21766210 | 27161 | AGO2 | umls:C0006142 | BeFree | In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. | 0.001085767 | 2011 | DDX5;CEP95 | 17 | 64506317 | A | G |
| rs1991401 | 21766210 | 1655 | DDX5 | umls:C0006142 | BeFree | In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. | 0.001628651 | 2011 | DDX5;CEP95 | 17 | 64506317 | A | G |
| rs200050883 | 24390236 | 11200 | CHEK2 | umls:C0006142 | BeFree | Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin. | 0.236916095 | 2013 | CHEK2 | 22 | 28695190 | C | A |
| rs200389141 | 25182961 | 641 | BLM | umls:C0006142 | BeFree | A nonsense mutation, p.Q548X, in the BLM gene has recently been associated with an increased risk for breast cancer. | 0.010086957 | 2015 | BLM | 15 | 90761015 | C | T |
| rs200389141 | 21815139 | 641 | BLM | umls:C0006142 | BeFree | High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. | 0.010086957 | 2012 | BLM | 15 | 90761015 | C | T |
| rs200389141 | 23225144 | 641 | BLM | umls:C0006142 | BeFree | Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. | 0.010086957 | 2013 | BLM | 15 | 90761015 | C | T |
| rs200389141 | 24096176 | 641 | BLM | umls:C0006142 | BeFree | Recently, a recurrent truncating mutation of BLM (Q548X) has been associated with a 6-fold increased risk of breast cancer in Russia, Belarus and Ukraine, but its role in prostate cancer etiology and survival has not been investigated yet. | 0.010086957 | 2013 | BLM | 15 | 90761015 | C | T |
| rs200449040 | 18523885 | 7040 | TGFB1 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.09001189 | 2009 | BRCA1 | 17 | 43104150 | A | G |
| rs200449040 | 18523885 | 675 | BRCA2 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.48 | 2009 | BRCA1 | 17 | 43104150 | A | G |
| rs200449040 | 18523885 | 672 | BRCA1 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.36 | 2009 | BRCA1 | 17 | 43104150 | A | G |
| rs200469041 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs200469041 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | GSTK1;LOC105375545 | 7 | 143265021 | G | A |
| rs2008591 | 23526039 | 406961 | MIR185 | umls:C0006142 | BeFree | Two miR-185 SNPs provided suggestive evidence of an inverse association with breast cancer risk (rs2008591, OR = 0.72 (95 % CI = 0.53-0.98, p value = 0.04) and rs887205, OR = 0.71 (95 % CI = 0.52-0.96, p value = 0.03), respectively) among African Americans. | 0.001357209 | 2013 | TANGO2;MIR185 | 22 | 20032706 | C | T |
| rs200890679 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200890679 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | MTHFR | 1 | 11795191 | C | G |
| rs200928781 | 25619829 | 11200 | CHEK2 | umls:C0006142 | BeFree | A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk. | 0.236916095 | 2014 | CHEK2 | 22 | 28695800 | T | C,G |
| rs2010750 | 22199302 | 1312 | COMT | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.101172466 | 2011 | MLX | 17 | 42571373 | C | T |
| rs2010750 | 22199302 | 2099 | ESR1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.24 | 2011 | MLX | 17 | 42571373 | C | T |
| rs2010750 | 22199302 | 54658 | UGT1A1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.027741948 | 2011 | MLX | 17 | 42571373 | C | T |
| rs2010750 | 22199302 | 3292 | HSD17B1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.04194414 | 2011 | MLX | 17 | 42571373 | C | T |
| rs2010963 | 24816918 | 7422 | VEGFA | umls:C0006142 | BeFree | Vascular endothelial growth factor gene polymorphism (-634G/C) and breast cancer risk. | 0.105385593 | 2014 | VEGFA | 6 | 43770613 | C | G |
| rs2010963 | 26067906 | 7422 | VEGFA | umls:C0006142 | BeFree | The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer Susceptibility, Tumor Growth, and Metastases: Evidence From 20,728 Subjects. | 0.105385593 | 2015 | VEGFA | 6 | 43770613 | C | G |
| rs201627097 | 25105795 | 84142 | FAM175A | umls:C0006142 | UNIPROT | Mislocalization of BRCA1-complex due to ABRAXAS Arg361Gln mutation. | 0.125005506 | 2014 | FAM175A | 4 | 83462617 | C | T |
| rs201765376 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | MTR | 1 | 236838504 | C | T |
| rs201765376 | 17896178 | 4548 | MTR | umls:C0006142 | BeFree | Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. | 0.028284832 | 2008 | MTR | 1 | 236838504 | C | T |
| rs201765376 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | MTR | 1 | 236838504 | C | T |
| rs201765376 | 17896178 | 4524 | MTHFR | umls:C0006142 | BeFree | Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. | 0.100901024 | 2008 | MTR | 1 | 236838504 | C | T |
| rs2020955 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | ERCC4 | 16 | 13944802 | T | C |
| rs2020955 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | ERCC4 | 16 | 13944802 | T | C |
| rs2020955 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | ERCC4 | 16 | 13944802 | T | C |
| rs20417 | 25214704 | 5743 | PTGS2 | umls:C0006142 | BeFree | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with the susceptibility of breast cancer: an updated meta-analysis involving 34,590 subjects. | 0.075287883 | 2014 | PTGS2;PACERR | 1 | 186681189 | C | G |
| rs2043556 | 22074121 | 693190 | MIR605 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.000542884 | 2012 | PRKG1;MIR605 | 10 | 51299646 | T | C |
| rs2043556 | 23982873 | 693190 | MIR605 | umls:C0006142 | BeFree | In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913*T, miR-499 rs3746444*T, miR-605 rs2043556*A, and miR-27a rs895919*C alleles might be protective factors for breast cancer. | 0.000542884 | 2013 | PRKG1;MIR605 | 10 | 51299646 | T | C |
| rs2043556 | 22074121 | 407018 | MIR27A | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.003995683 | 2012 | PRKG1;MIR605 | 10 | 51299646 | T | C |
| rs2043556 | 22074121 | 406941 | MIR149 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.001357209 | 2012 | PRKG1;MIR605 | 10 | 51299646 | T | C |
| rs2046210 | 22053997 | 2099 | ESR1 | umls:C0006142 | BeFree | In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. | 0.24 | 2011 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 21593217 | 2099 | ESR1 | umls:C0006142 | BeFree | Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). | 0.24 | 2011 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 24289300 | 2099 | ESR1 | umls:C0006142 | BeFree | In Japanese women, rs2046210 and 3757318 located near the ESR1 gene are associated with a risk of breast cancer, as in other Asian women. | 0.24 | 2013 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 19219042 | 2099 | ESR1 | umls:C0006142 | BeFree | SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor alpha (ESR1), showed strong and consistent association with breast cancer across all three stages. | 0.24 | 2009 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 19219042 | 80129 | CCDC170 | umls:C0006142 | GAD | [Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.] | 0.123181358 | 2009 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 25228414 | 2099 | ESR1 | umls:C0006142 | BeFree | When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations in ER-positive than in ER-negative breast cancer in only EA women. | 0.24 | 2015 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | LOC105378058 | 6 | 151627231 | G | A |
| rs2046210 | 21272446 | 2099 | ESR1 | umls:C0006142 | BeFree | Given that endometrial cancer shares many risk factors with breast cancer and both are related to estrogen exposure and that rs2046210 is in close proximity to the ESR1 gene, we evaluated the association of SNP rs2046210 with endometrial cancer risk among 953 cases and 947 controls in a population-based, case-control study conducted in Shanghai, China. | 0.24 | 2011 | LOC105378058 | 6 | 151627231 | G | A |
| rs2051579 | 23143756 | 2263 | FGFR2 | umls:C0006142 | BeFree | Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. | 0.229599312 | 2012 | RBFOX2 | 22 | 35835310 | G | T |
| rs2051579 | 23143756 | 2099 | ESR1 | umls:C0006142 | BeFree | Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. | 0.24 | 2012 | RBFOX2 | 22 | 35835310 | G | T |
| rs2059614 | 25890600 | 63876 | PKNOX2 | umls:C0006142 | GWASCAT | Identification of novel genetic markers of breast cancer survival. | 0.12 | 2015 | PKNOX2 | 11 | 125389528 | A | G |
| rs2066827 | 24523023 | 1027 | CDKN1B | umls:C0006142 | BeFree | Lack of association between cyclin-dependent kinase inhibitor 1B rs2066827 polymorphism and breast cancer susceptibility. | 0.034408443 | 2014 | CDKN1B;GPR19 | 12 | 12718165 | T | A,C,G |
| rs2066853 | 16103451 | 196 | AHR | umls:C0006142 | BeFree | The findings provide no evidence for a role of COMT Val58Met, CYP1A1*2A, CYP3A4*1B, CYP1B1 Leu432Val, SULT1A1 Arg213His, and AHR Arg554Lys in breast cancer etiology. | 0.026688518 | 2005 | AHR | 7 | 17339486 | G | A |
| rs2066853 | 21454829 | 2950 | GSTP1 | umls:C0006142 | BeFree | Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. | 0.099000931 | 2011 | AHR | 7 | 17339486 | G | A |
| rs2066853 | 16103451 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We investigated the associations between breast cancer and sequence variants in several genes in the estradiol/estrone metabolism pathway (CYP1A1*2A, CYP1A2*1F, CYP1B1 Leu432Val, CYP3A4*1B, COMT Val158Met, SULT1A1Arg213His) as well as the Arg554Lys variant in AHR (a transcription factor for CYP1A1, CYP1A2, and CYP1B1) in a case-control study of 1,339 breast cancer cases and 1,370 controls nested in the Multiethnic Cohort Study. | 0.096829396 | 2005 | AHR | 7 | 17339486 | G | A |
| rs2066853 | 16103451 | 1543 | CYP1A1 | umls:C0006142 | BeFree | We investigated the associations between breast cancer and sequence variants in several genes in the estradiol/estrone metabolism pathway (CYP1A1*2A, CYP1A2*1F, CYP1B1 Leu432Val, CYP3A4*1B, COMT Val158Met, SULT1A1Arg213His) as well as the Arg554Lys variant in AHR (a transcription factor for CYP1A1, CYP1A2, and CYP1B1) in a case-control study of 1,339 breast cancer cases and 1,370 controls nested in the Multiethnic Cohort Study. | 0.103886885 | 2005 | AHR | 7 | 17339486 | G | A |
| rs2067980 | 20095854 | 10884 | MRPS30 | umls:C0006142 | BeFree | In exploratory analyses, we found that the radiation-associated breast cancer risk varied significantly by linked markers in 5p12 (rs930395, rs10941679, rs2067980 and rs4415084) in the mitochondrial ribosomal protein S30 (MRPS30) gene (P(interaction) = 0.04). | 0.003724241 | 2010 | NA | 5 | 44982215 | A | G |
| rs2069861 | 21523452 | 3570 | IL6R | umls:C0006142 | BeFree | There was a significantly increased risk of breast cancer associated with one or more C>T alleles at IL6 rs2069861 among subjects in the oldest age group (OR 1.8, 95% CI 1.1-2.9), but no overall increased risk of breast cancer associated with any IL6 or IL6R variants in the combined data. | 0.001085767 | 2011 | IL6 | 7 | 22732035 | C | T |
| rs2070094 | 16333312 | 580 | BARD1 | umls:C0006142 | BeFree | BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. | 0.114180608 | 2006 | BARD1 | 2 | 214767531 | C | T |
| rs2070094 | 14550946 | 580 | BARD1 | umls:C0006142 | BeFree | Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer. | 0.114180608 | 2003 | BARD1 | 2 | 214767531 | C | T |
| rs2070593 | 24278290 | 7296 | TXNRD1 | umls:C0006142 | BeFree | Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. | 0.009001189 | 2013 | GPX3 | 5 | 151028379 | G | A |
| rs2071002 | 19351655 | 4835 | NQO2 | umls:C0006142 | BeFree | In the first hospital-based study (n = 1604), we observed significant associations between the incidence of breast cancer and a 29 bp-insertion/deletion polymorphism (29 bp-I/D) and the rs2071002 (+237A>C) polymorphism, both of which are located within the NQO2 promoter region. | 0.00554839 | 2009 | NQO2;LOC105374888 | 6 | 3000069 | A | C |
| rs2073498 | 18172292 | 675 | BRCA2 | umls:C0006142 | BeFree | Importantly, we found that the co-occurrence of a BRCA1 or BRCA2 mutation and A133S in RASSF1A was associated with earlier onset of breast cancer compared with those individuals with either a BRCA1/2 mutation or the A133S polymorphism alone (36.0 versus 42.0 years old, P = 0.002). | 0.48 | 2008 | RASSF1 | 3 | 50332115 | C | A |
| rs2073498 | 18172292 | 672 | BRCA1 | umls:C0006142 | BeFree | RASSF1A polymorphism A133S is associated with early onset breast cancer in BRCA1/2 mutation carriers. | 0.36 | 2008 | RASSF1 | 3 | 50332115 | C | A |
| rs2073498 | 18172292 | 11186 | RASSF1 | umls:C0006142 | BeFree | RASSF1A polymorphism A133S is associated with early onset breast cancer in BRCA1/2 mutation carriers. | 0.02575464 | 2008 | RASSF1 | 3 | 50332115 | C | A |
| rs2074451 | 24278290 | 7296 | TXNRD1 | umls:C0006142 | BeFree | Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. | 0.009001189 | 2013 | GPX4 | 19 | 1107036 | T | G |
| rs2075356 | 25376984 | 51738 | GHRL | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.00764398 | 2014 | GHRL;GHRLOS | 3 | 10287125 | T | C |
| rs2075356 | 25376984 | 2693 | GHSR | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.005819831 | 2014 | GHRL;GHRLOS | 3 | 10287125 | T | C |
| rs2075555 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 17903305 | 1277 | COL1A1 | umls:C0006142 | GWASCAT | The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p = 8.0 x 10(-8) in COL1A1; and prostate cancer, rs9311171, p = 1.75 x 10(-6) in CTDSPL. | 0.122909916 | 2007 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 17903305 | 1277 | COL1A1 | umls:C0006142 | GAD | [The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p = 8.0 x 10(-8) in COL1A1; and prostate cancer, rs9311171, p = 1.75 x 10(-6) in CTDSPL.] | 0.122909916 | 2007 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 21791674 | 4046 | LSP1 | umls:C0006142 | BeFree | Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. | 0.161672698 | 2011 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 21791674 | 81847 | RNF146 | umls:C0006142 | BeFree | Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. | 0.123181358 | 2011 | COL1A1 | 17 | 50196930 | T | G |
| rs2075555 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | COL1A1 | 17 | 50196930 | T | G |
| rs2107425 | 20145138 | 4046 | LSP1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.161672698 | 2010 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 18708391 | 283120 | H19 | umls:C0006142 | BeFree | Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphisms, we found that the genotype-associated breast cancer risk varied significantly by radiation dose for rs2107425 in the H19 gene (P(interaction) = 0.001). | 0.008186863 | 2008 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 20145138 | 841 | CASP8 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.049197125 | 2010 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 20145138 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.166482707 | 2010 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 22867275 | 2263 | FGFR2 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.229599312 | 2012 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 22867275 | 4046 | LSP1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.161672698 | 2012 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 22867275 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.166482707 | 2012 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 22867275 | 27324 | TOX3 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.170011451 | 2012 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2134808 | 20508983 | 7283 | TUBG1 | umls:C0006142 | BeFree | A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer. | 0.002909916 | 2011 | NA | 17 | 42630065 | T | G |
| rs2134808 | 20508983 | 51199 | NIN | umls:C0006142 | BeFree | A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer. | 0.002638474 | 2011 | NA | 17 | 42630065 | T | G |
| rs2155209 | 25566853 | 4361 | MRE11A | umls:C0006142 | BeFree | MRE11A rs2155209 and RAD52 rs7963551 were found to be associated with BC risk (ORadjusted: 1.87; 95 % CI: 1.23-2.86 and ORadjusted: 0.36; 95 % CI: 0.24-0.58). | 0.016645169 | 2014 | MRE11A | 11 | 94417624 | T | C |
| rs2180341 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 18326623 | 81847 | RNF146 | umls:C0006142 | GAD | [Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis.] | 0.123181358 | 2008 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 21791674 | 81847 | RNF146 | umls:C0006142 | BeFree | Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. | 0.123181358 | 2011 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 18326623 | 81847 | RNF146 | umls:C0006142 | GWASCAT | Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis. | 0.123181358 | 2008 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 18326623 | 55862 | ECHDC1 | umls:C0006142 | GAD | [Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis.] | 0.005276948 | 2008 | RNF146 | 6 | 127279485 | G | A |
| rs2180341 | 21791674 | 4046 | LSP1 | umls:C0006142 | BeFree | Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. | 0.161672698 | 2011 | RNF146 | 6 | 127279485 | G | A |
| rs2227983 | 19636371 | 2099 | ESR1 | umls:C0006142 | BeFree | Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia. | 0.24 | 2009 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2227983 | 19636371 | 1956 | EGFR | umls:C0006142 | BeFree | Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia. | 0.10367032 | 2009 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2227983 | 19636371 | 2064 | ERBB2 | umls:C0006142 | BeFree | Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia. | 0.24 | 2009 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2227998 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | XPC | 3 | 14152389 | C | T,G |
| rs2227998 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | XPC | 3 | 14152389 | C | T,G |
| rs2227998 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | XPC | 3 | 14152389 | C | T,G |
| rs2228000 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | XPC | 3 | 14158387 | G | A |
| rs2228001 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | XPC | 3 | 14145949 | G | T |
| rs2228014 | 19196101 | 7852 | CXCR4 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.028968335 | 2009 | CXCR4 | 2 | 136115514 | G | A |
| rs2228014 | 19196101 | 1236 | CCR7 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.006167218 | 2009 | CXCR4 | 2 | 136115514 | G | A |
| rs2228014 | 19196101 | 7422 | VEGFA | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.105385593 | 2009 | CXCR4 | 2 | 136115514 | G | A |
| rs2228480 | 25116933 | 2099 | ESR1 | umls:C0006142 | BeFree | Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and rs2228480 and rs3798758 in ESR1-with variant allele attributed odds ratios (ORs) of 1.38 (95% confidence interval (CI): 1.20 to 1.57, P=2.21×10(-6)), 0.84 (95% CI: 0.72 to 0.98, P=0.025) and 1.19 (95% CI: 1.04 to 1.37, P=0.013), respectively. | 0.24 | 2014 | ESR1 | 6 | 152098960 | G | A |
| rs2228526 | 18767034 | 2074 | ERCC6 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.00973957 | 2008 | ERCC6;LOC105378300 | 10 | 49470671 | T | C |
| rs2228526 | 18767034 | 2072 | ERCC4 | umls:C0006142 | BeFree | In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. | 0.031933128 | 2008 | ERCC6;LOC105378300 | 10 | 49470671 | T | C |
| rs2228570 | 19124512 | 7421 | VDR | umls:C0006142 | BeFree | Two common single nucleotide polymorphisms (SNP) in the VDR gene (VDR), rs1544410 (BsmI), and rs2228570 (FokI), have been inconsistently associated with breast cancer risk. | 0.065918239 | 2009 | VDR | 12 | 47879112 | A | T,G,C |
| rs2228570 | 21693626 | 2638 | GC | umls:C0006142 | BeFree | For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds ratio (OR) = 1.23; 95% CI: 1.01, 1.51) and inversely with the VDR Fok1 (rs2228570) ff genotype (OR = 0.71; 95% CI: 0.57, 0.88). | 0.003181358 | 2011 | VDR | 12 | 47879112 | A | T,G,C |
| rs2229765 | 19124506 | 3480 | IGF1R | umls:C0006142 | GAD | [Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.] | 0.02800212 | 2009 | IGF1R | 15 | 98934996 | G | A |
| rs2229882 | 24493630 | 4214 | MAP3K1 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.166482707 | 2015 | MAP3K1 | 5 | 56872885 | C | T |
| rs2230009 | 17764108 | 7486 | WRN | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.010553895 | 2008 | WRN | 8 | 31064419 | G | A |
| rs2230009 | 17764108 | 672 | BRCA1 | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.36 | 2008 | WRN | 8 | 31064419 | G | A |
| rs2230009 | 17764108 | 5591 | PRKDC | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.011639663 | 2008 | WRN | 8 | 31064419 | G | A |
| rs2230774 | 20939434 | 9475 | ROCK2 | umls:C0006142 | BeFree | Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases of breast cancer. | 0.003181358 | 2010 | ROCK2 | 2 | 11218994 | G | T,C |
| rs2231142 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | ABCG2 | 4 | 88131171 | G | T |
| rs2233004 | 21455670 | 5980 | REV3L | umls:C0006142 | BeFree | Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). | 0.002638474 | 2011 | MAD2L2 | 1 | 11682017 | C | T |
| rs2233004 | 21455670 | 10459 | MAD2L2 | umls:C0006142 | BeFree | Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). | 0.002638474 | 2011 | MAD2L2 | 1 | 11682017 | C | T |
| rs2233406 | 25559835 | 4792 | NFKBIA | umls:C0006142 | BeFree | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. | 0.003181358 | 2015 | NFKBIA | 14 | 35405593 | G | A |
| rs2233678 | 23982872 | 5300 | PIN1 | umls:C0006142 | BeFree | In conclusion, PIN1 rs2233678 polymorphism might be a potential biomarker for cancer risk among Asians, especially for breast cancer. | 0.01078173 | 2013 | PIN1;LOC100996288 | 19 | 9834503 | G | C |
| rs2234693 | 23935996 | 54658 | UGT1A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.027741948 | 2013 | ESR1 | 6 | 151842200 | T | C |
| rs2234693 | 23935996 | 5241 | PGR | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.132074704 | 2013 | ESR1 | 6 | 151842200 | T | C |
| rs2234693 | 23935996 | 1588 | CYP19A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.113930234 | 2013 | ESR1 | 6 | 151842200 | T | C |
| rs2234693 | 21454829 | 2950 | GSTP1 | umls:C0006142 | BeFree | Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. | 0.099000931 | 2011 | ESR1 | 6 | 151842200 | T | C |
| rs2234693 | 24430361 | 1586 | CYP17A1 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.096829396 | 2013 | ESR1 | 6 | 151842200 | T | C |
| rs2234693 | 24430361 | 2100 | ESR2 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.068274001 | 2013 | ESR1 | 6 | 151842200 | T | C |
| rs2236007 | 23535729 | 5083 | PAX9 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | PAX9;LOC105370455 | 14 | 36663564 | G | A |
| rs2236722 | 19469636 | 2263 | FGFR2 | umls:C0006142 | BeFree | CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in south Indian women. | 0.229599312 | 2009 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 19469636 | 1586 | CYP17A1 | umls:C0006142 | BeFree | CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in south Indian women. | 0.096829396 | 2009 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 18820009 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype of CYP19A1 codon 39 (rs2236722), the methionine (Met) allele of COMT codon 158 (rs4680) or Pro allele of p53 codon 72 (rs1042522) were more frequent in ER-positive than ER-negative breast cancer, especially in patients less than 50-year old. | 0.113930234 | 2008 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 18820009 | 7157 | TP53 | umls:C0006142 | BeFree | Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype of CYP19A1 codon 39 (rs2236722), the methionine (Met) allele of COMT codon 158 (rs4680) or Pro allele of p53 codon 72 (rs1042522) were more frequent in ER-positive than ER-negative breast cancer, especially in patients less than 50-year old. | 0.24 | 2008 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 20133979 | 1588 | CYP19A1 | umls:C0006142 | BeFree | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susceptibility. | 0.113930234 | 2010 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 15298966 | 1588 | CYP19A1 | umls:C0006142 | BeFree | The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausal Japanese. | 0.113930234 | 2004 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 20133979 | 1586 | CYP17A1 | umls:C0006142 | BeFree | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susceptibility. | 0.096829396 | 2010 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2236722 | 19469636 | 1588 | CYP19A1 | umls:C0006142 | BeFree | CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in south Indian women. | 0.113930234 | 2009 | CYP19A1;PIRC66 | 15 | 51242798 | A | G |
| rs2241906 | 25287073 | 6786 | STIM1 | umls:C0006142 | BeFree | Among the actors of ERα signaling, KSR1 rs2241906 variants may predict survival in patients with advanced ERα+ BC treated with adjuvant TAM. | 0.004614512 | 2014 | KSR1 | 17 | 27623149 | C | T |
| rs2242652 | 23629941 | 7015 | TERT | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.13842571 | 2013 | TERT | 5 | 1279913 | G | A |
| rs2242652 | 23629941 | 8658 | TNKS | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007372538 | 2013 | TERT | 5 | 1279913 | G | A |
| rs2242652 | 23629941 | 7014 | TERF2 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007915422 | 2013 | TERT | 5 | 1279913 | G | A |
| rs2242652 | 23629941 | 7011 | TEP1 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.005005506 | 2013 | TERT | 5 | 1279913 | G | A |
| rs2243250 | 24164868 | 3447 | IFNA13 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.003257302 | 2013 | IL4 | 5 | 132673462 | C | T |
| rs2243250 | 24164868 | 3565 | IL4 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.01062984 | 2013 | IL4 | 5 | 132673462 | C | T |
| rs2243250 | 24164868 | 6347 | CCL2 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.005700279 | 2013 | IL4 | 5 | 132673462 | C | T |
| rs2243250 | 24164868 | 3458 | IFNG | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.019435532 | 2013 | IL4 | 5 | 132673462 | C | T |
| rs2245092 | 19454617 | 5578 | PRKCA | umls:C0006142 | BeFree | Of these, PRKCA rs7342847 and TLK2 rs2245092 and rs733025 were also associated with hormone receptor-positive breast cancer: PRKCA rs7342847 (odds ratio, 0.7; 95% confidence interval, 0.6-0.9; P(trend) = 0.002) and TLK2 rs733025 and rs2245092 (both: odds ratio, 0.8; 95% confidence interval, 0.7-1.0; P(trend) = 0.03). | 0.00643866 | 2009 | TLK2 | 17 | 62613713 | G | A |
| rs2267337 | 21792883 | 1666 | DECR1 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.001357209 | 2011 | TXN2 | 22 | 36474424 | T | C |
| rs2267337 | 21792883 | 25828 | TXN2 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.00764398 | 2011 | TXN2 | 22 | 36474424 | T | C |
| rs2267337 | 21792883 | 7295 | TXN | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.01062984 | 2011 | TXN2 | 22 | 36474424 | T | C |
| rs2267337 | 21792883 | 1535 | CYBA | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.000542884 | 2011 | TXN2 | 22 | 36474424 | T | C |
| rs2267437 | 25569644 | 2547 | XRCC6 | umls:C0006142 | BeFree | Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in other cancers.Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms. | 0.014549579 | 2015 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2267437 | 23745766 | 2547 | XRCC6 | umls:C0006142 | BeFree | This meta-analysis suggests that the XRCC6 rs2267437 polymorphism may affect breast cancer susceptibility and increase the risk of cancer in Asian populations and in the general population. | 0.014549579 | 2014 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2267437 | 22833453 | 2547 | XRCC6 | umls:C0006142 | BeFree | Our data provide a possible molecular explanation for the associations observed between the KU70 regulatory variant rs2267437 and breast cancer risk. | 0.014549579 | 2012 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2273535 | 21412660 | 6790 | AURKA | umls:C0006142 | BeFree | High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. | 0.038252236 | 2011 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 17627006 | 672 | BRCA1 | umls:C0006142 | BeFree | AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. | 0.36 | 2007 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 25169513 | 6790 | AURKA | umls:C0006142 | BeFree | The AURKA gene rs2273535 polymorphism contributes to breast carcinoma risk - meta-analysis of eleven studies. | 0.038252236 | 2015 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 16849685 | 6790 | AURKA | umls:C0006142 | BeFree | Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk. | 0.038252236 | 2006 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 25154511 | 6790 | AURKA | umls:C0006142 | BeFree | In summary, this meta-analysis suggests that STK15 F31I polymorphism is associated with increased breast cancer and ovarian cancer risk among Caucasians, F31I polymorphism is associated with decreased lung cancer risk among Caucasians, and V57I polymorphism is associated with decreased breast cancer risk among Caucasians. | 0.038252236 | 2014 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 24349361 | 6790 | AURKA | umls:C0006142 | BeFree | Our results indicate statistical evidence of an association between the STK15 F31I polymorphism and the increased risk of overall cancer in four genetic models: AA vs. TA+TT, AA vs. TT, AA vs. TA, and A vs. T. In a stratified analysis by cancer type, there was an increased risk of breast cancer in four genetic models: AA vs. TA+TT, AA vs. TT, AA vs. TA, and A vs. T, as well as esophageal cancer in two genetic models: AA vs. TA+TT and AA vs. TA. | 0.038252236 | 2013 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 20464476 | 6790 | AURKA | umls:C0006142 | BeFree | Lack of an association between AURKA T91A polymorphisms and breast cancer: a meta-analysis involving 32,141 subjects. | 0.038252236 | 2011 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 17627006 | 675 | BRCA2 | umls:C0006142 | BeFree | AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. | 0.48 | 2007 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 17627006 | 6790 | AURKA | umls:C0006142 | BeFree | AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. | 0.038252236 | 2007 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 23803310 | 6790 | AURKA | umls:C0006142 | BeFree | Two nonsynonymous polymorphisms (F31I and V57I) of the STK15 gene and breast cancer risk: a meta-analysis based on 5966 cases and 7609 controls. | 0.038252236 | 2014 | AURKA | 20 | 56386485 | A | T |
| rs2273802 | 24510587 | 16 | AARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | WARS;WDR25 | 14 | 100376562 | G | A |
| rs2273802 | 24510587 | 7453 | WARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | WARS;WDR25 | 14 | 100376562 | G | A |
| rs2273802 | 24510587 | 3035 | HARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | WARS;WDR25 | 14 | 100376562 | G | A |
| rs2273802 | 24510587 | 5917 | RARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | WARS;WDR25 | 14 | 100376562 | G | A |
| rs2278749 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2278749 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2278749 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2278749 | 23822714 | 15 | AANAT | umls:C0006142 | BeFree | After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420). | 0.000814326 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2278749 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2278749 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2278749 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | ARNTL;LOC105376559 | 11 | 13376331 | C | T |
| rs2281082 | 21792883 | 1535 | CYBA | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.000542884 | 2011 | TXN2 | 22 | 36476703 | T | G |
| rs2281082 | 21792883 | 1666 | DECR1 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.001357209 | 2011 | TXN2 | 22 | 36476703 | T | G |
| rs2281082 | 21792883 | 7295 | TXN | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.01062984 | 2011 | TXN2 | 22 | 36476703 | T | G |
| rs2281082 | 21792883 | 25828 | TXN2 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.00764398 | 2011 | TXN2 | 22 | 36476703 | T | G |
| rs2284378 | 22976474 | 22913 | RALY | umls:C0006142 | GWASCAT | A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. | 0.120271442 | 2012 | RALY | 20 | 34000289 | T | C |
| rs2284659 | 25416100 | 4968 | OGG1 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.026189242 | 2014 | NA | 4 | 24793175 | T | G |
| rs2284659 | 25416100 | 257202 | GPX6 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000271442 | 2014 | NA | 4 | 24793175 | T | G |
| rs2284659 | 25416100 | 6649 | SOD3 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000542884 | 2014 | NA | 4 | 24793175 | T | G |
| rs2287499 | 25134915 | 55135 | WRAP53 | umls:C0006142 | BeFree | Single-strand conformational polymorphism analysis of a common single nucleotide variation in WRAP53 gene, rs2287499, and evaluating its association in relation to breast cancer risk and prognosis among Iranian-Azeri population. | 0.003181358 | 2014 | TP53;WRAP53 | 17 | 7688850 | C | G |
| rs2289046 | 18611262 | 10249 | GLYAT | umls:C0006142 | BeFree | When these three SNPs were examined as a haplotype, only the haplotype that included the G allele of rs2289046 was associated with breast cancer (odds ratio = 0.76, 95% confidence interval = 0.63-0.92 for TGC versus CAT). | 0.003800186 | 2008 | IRS2 | 13 | 109755559 | T | C |
| rs2289046 | 18611262 | 7052 | TGM2 | umls:C0006142 | BeFree | When these three SNPs were examined as a haplotype, only the haplotype that included the G allele of rs2289046 was associated with breast cancer (odds ratio = 0.76, 95% confidence interval = 0.63-0.92 for TGC versus CAT). | 0.004885954 | 2008 | IRS2 | 13 | 109755559 | T | C |
| rs2290035 | 23822714 | 15 | AANAT | umls:C0006142 | BeFree | After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420). | 0.000814326 | 2013 | ARNTL | 11 | 13386224 | T | A |
| rs2290203 | 25038754 | 57561 | ARRDC3 | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.000814326 | 2014 | PRC1;PRC1-AS1 | 15 | 90968837 | G | A |
| rs2290203 | 25038754 | 91433 | RCCD1 | umls:C0006142 | GWASCAT | Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. | 0.12 | 2014 | PRC1;PRC1-AS1 | 15 | 90968837 | G | A |
| rs2290203 | 25038754 | 9055 | PRC1 | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120814326 | 2014 | PRC1;PRC1-AS1 | 15 | 90968837 | G | A |
| rs2290203 | 25038754 | 100507118 | PRC1-AS1 | umls:C0006142 | GWASCAT | Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. | 0.12 | 2014 | PRC1;PRC1-AS1 | 15 | 90968837 | G | A |
| rs2290203 | 25038754 | 9877 | ZC3H11A | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120271442 | 2014 | PRC1;PRC1-AS1 | 15 | 90968837 | G | A |
| rs2290203 | 25038754 | 9055 | PRC1 | umls:C0006142 | GWASCAT | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120814326 | 2014 | PRC1;PRC1-AS1 | 15 | 90968837 | G | A |
| rs2292832 | 18634034 | 5018 | OXA1L | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.003257302 | 2009 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 23982873 | 406938 | MIR146A | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.008262808 | 2013 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 18634034 | 406938 | MIR146A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.008262808 | 2009 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 23982873 | 494335 | MIR423 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.000814326 | 2013 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 23982873 | 406941 | MIR149 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001357209 | 2013 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 23982873 | 442918 | MIR373 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001900093 | 2013 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 22074121 | 693190 | MIR605 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.000542884 | 2012 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 22074121 | 407018 | MIR27A | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.003995683 | 2012 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 18634034 | 574501 | MIR499A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.004538567 | 2009 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 22074121 | 406941 | MIR149 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.001357209 | 2012 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2296135 | 23996684 | 3566 | IL4R | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.005276948 | 2013 | IL15RA | 10 | 5952731 | A | C |
| rs2296135 | 23996684 | 7040 | TGFB1 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.09001189 | 2013 | IL15RA | 10 | 5952731 | A | C |
| rs2296135 | 23996684 | 3601 | IL15RA | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | IL15RA | 10 | 5952731 | A | C |
| rs2296135 | 23996684 | 3460 | IFNGR2 | umls:C0006142 | BeFree | Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. | 0.000271442 | 2013 | IL15RA | 10 | 5952731 | A | C |
| rs2297381 | 23755158 | 4292 | MLH1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.022345448 | 2013 | RPAP1 | 15 | 41535457 | C | T |
| rs2297381 | 23755158 | 4193 | MDM2 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.05931642 | 2013 | RPAP1 | 15 | 41535457 | C | T |
| rs2297381 | 23755158 | 26015 | RPAP1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.000271442 | 2013 | RPAP1 | 15 | 41535457 | C | T |
| rs2297381 | 23755158 | 328 | APEX1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.018816704 | 2013 | RPAP1 | 15 | 41535457 | C | T |
| rs2301241 | 21792883 | 25828 | TXN2 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.00764398 | 2011 | TXN | 9 | 110257228 | G | A |
| rs2301241 | 21792883 | 7295 | TXN | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.01062984 | 2011 | TXN | 9 | 110257228 | G | A |
| rs2301241 | 21792883 | 1666 | DECR1 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.001357209 | 2011 | TXN | 9 | 110257228 | G | A |
| rs2301241 | 21792883 | 1535 | CYBA | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.000542884 | 2011 | TXN | 9 | 110257228 | G | A |
| rs2304277 | 24698998 | 672 | BRCA1 | umls:C0006142 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.36 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs2304277 | 24698998 | 252969 | NEIL2 | umls:C0006142 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.002638474 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs2304277 | 24698998 | 675 | BRCA2 | umls:C0006142 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.48 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs23051560 | 22473669 | 4862 | NPAS2 | umls:C0006142 | BeFree | However, when accounting for potential effect modification, rs23051560 (Ala394Thr) in the largest circadian gene, Neuronal PAS domain protein 2 (NPAS2) was most strongly associated with breast cancer risk (nominal test for interaction p-value = 0.0005; 10,000-permutation-based main-effects p-value among women with < 24 months of shift-work = 0.003). | 0.009001189 | 2012 | NA | NA | NA | NA | NA |
| rs2305160 | 22473669 | 4862 | NPAS2 | umls:C0006142 | BeFree | However, when accounting for potential effect modification, rs23051560 (Ala394Thr) in the largest circadian gene, Neuronal PAS domain protein 2 (NPAS2) was most strongly associated with breast cancer risk (nominal test for interaction p-value = 0.0005; 10,000-permutation-based main-effects p-value among women with < 24 months of shift-work = 0.003). | 0.009001189 | 2012 | NPAS2;LOC101927142 | 2 | 100974842 | A | G |
| rs2306074 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | ARNTL2;ARNTL2-AS1 | 12 | 27402853 | T | C |
| rs2306074 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | ARNTL2;ARNTL2-AS1 | 12 | 27402853 | T | C |
| rs2306074 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | ARNTL2;ARNTL2-AS1 | 12 | 27402853 | T | C |
| rs2306074 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | ARNTL2;ARNTL2-AS1 | 12 | 27402853 | T | C |
| rs2306074 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | ARNTL2;ARNTL2-AS1 | 12 | 27402853 | T | C |
| rs2306074 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | ARNTL2;ARNTL2-AS1 | 12 | 27402853 | T | C |
| rs231775 | 15218356 | 1493 | CTLA4 | umls:C0006142 | BeFree | The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cancer and 151 age/sex matched normal individuals. | 0.009001189 | 2004 | CTLA4 | 2 | 203867991 | A | G,T |
| rs2363956 | 20852631 | 2099 | ESR1 | umls:C0006142 | BeFree | Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P(trend) = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P(trend) = 0.016). | 0.24 | 2010 | ANKLE1 | 19 | 17283315 | T | G |
| rs2363956 | 24325915 | 126549 | ANKLE1 | umls:C0006142 | GWASCAT | Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. | 0.122367032 | 2014 | ANKLE1 | 19 | 17283315 | T | G |
| rs2380205 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | NA | 10 | 5844771 | C | T |
| rs2380205 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | NA | 10 | 5844771 | C | T |
| rs2395 | 22506312 | 5530 | PPP3CA | umls:C0006142 | BeFree | Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway. | 0.001900093 | 2011 | MARK4 | 19 | 45303351 | A | G |
| rs2410373 | 17903305 | 2066 | ERBB4 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.132214884 | 2007 | NA | 8 | 16066997 | A | C |
| rs2410373 | 17903305 | 4481 | MSR1 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.000814326 | 2007 | NA | 8 | 16066997 | A | C |
| rs2420946 | 23225170 | 672 | BRCA1 | umls:C0006142 | BeFree | In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; and MAP3K1 rs889312, with BC risk in 351 BRCA1/2-negative Chilean BC cases and 802 controls. | 0.36 | 2013 | FGFR2 | 10 | 121591810 | T | C |
| rs2426618 | 25830658 | 675 | BRCA2 | umls:C0006142 | BeFree | Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03-1.16, p = 0.005 (FDR-adjusted p = 0.045). | 0.48 | 2015 | CSTF1 | 20 | 56399584 | A | G |
| rs2426618 | 25830658 | 1477 | CSTF1 | umls:C0006142 | BeFree | Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03-1.16, p = 0.005 (FDR-adjusted p = 0.045). | 0.000271442 | 2015 | CSTF1 | 20 | 56399584 | A | G |
| rs2430561 | 24164868 | 3458 | IFNG | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.019435532 | 2013 | IFNG | 12 | 68158742 | T | A |
| rs2430561 | 24164868 | 3565 | IL4 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.01062984 | 2013 | IFNG | 12 | 68158742 | T | A |
| rs2430561 | 24164868 | 3447 | IFNA13 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.003257302 | 2013 | IFNG | 12 | 68158742 | T | A |
| rs2430561 | 24164868 | 6347 | CCL2 | umls:C0006142 | BeFree | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 874T; rs2430561) and MCP-1 (MCP-1 A-2578G; rs1024611) were examined in premenopausal, healthy women (N = 239) and patients with breast cancer (N = 182) from western India. | 0.005700279 | 2013 | IFNG | 12 | 68158742 | T | A |
| rs2470893 | 25228414 | 1544 | CYP1A2 | umls:C0006142 | BeFree | The only other gene associated with breast cancer risk was CYP1A2 in AA women (rs2470893, OR=1.42, 95% CI=1.00-2.02, P=0.05), but not in EA women. | 0.029913483 | 2015 | CYP1A1 | 15 | 74727108 | C | T |
| rs2479717 | 18507837 | 896 | CCND3 | umls:C0006142 | BeFree | It is possible that CCND3 rs2479717, or another variant it tags, is associated with prognosis after a diagnosis of breast cancer. | 0.007448483 | 2008 | CCND3 | 6 | 41937436 | T | A |
| rs250108 | 23143756 | 2263 | FGFR2 | umls:C0006142 | BeFree | Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. | 0.229599312 | 2012 | FGF1 | 5 | 142614908 | G | A |
| rs250108 | 23143756 | 2099 | ESR1 | umls:C0006142 | BeFree | Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. | 0.24 | 2012 | FGF1 | 5 | 142614908 | G | A |
| rs2532105 | 19432957 | 7156 | TOP3A | umls:C0006142 | BeFree | The rs12945597 in TOP3A and rs2532105 in BLM showed increased risk for breast cancer. | 0.000271442 | 2009 | BLM | 15 | 90812255 | G | A |
| rs2532105 | 19432957 | 641 | BLM | umls:C0006142 | BeFree | The rs12945597 in TOP3A and rs2532105 in BLM showed increased risk for breast cancer. | 0.010086957 | 2009 | BLM | 15 | 90812255 | G | A |
| rs25486 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | XRCC1 | 19 | 43551746 | C | T |
| rs25486 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | XRCC1 | 19 | 43551746 | C | T |
| rs25486 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | XRCC1 | 19 | 43551746 | C | T |
| rs25487 | 22296363 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln gene polymorphism and breast cancer risk: a meta-analysis based on case-control studies. | 0.098186605 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24922669 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 rs25487 polymorphism predicts the survival of patients after postoperative radiotherapy and adjuvant chemotherapy for breast cancer. | 0.098186605 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24933103 | 5243 | ABCB1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.096710723 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 16319991 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.098186605 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25340946 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.098186605 | 2015 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24292986 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 R399Q polymorphism and risk of normal tissue injury after radiotherapy in breast cancer patients. | 0.098186605 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15066923 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. | 0.098186605 | 2004 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 17116943 | 7517 | XRCC3 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.084507108 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18669164 | 328 | APEX1 | umls:C0006142 | BeFree | The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved in contributing towards breast cancer susceptibility, while rs1799782 (XRCC1) might have protective influence. | 0.018816704 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24642895 | 7515 | XRCC1 | umls:C0006142 | BeFree | Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both independent and interactive effects on the development of breast cancer among northern Chinese women. | 0.098186605 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 14693738 | 7515 | XRCC1 | umls:C0006142 | BeFree | A population-based case-control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer. | 0.098186605 | 2003 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24933103 | 7517 | XRCC3 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.084507108 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24489692 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln polymorphism confers risk of breast cancer in American population: a meta-analysis of 10846 cases and 11723 controls. | 0.098186605 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24933103 | 2068 | ERCC2 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.083616838 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21622940 | 7515 | XRCC1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.098186605 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24933103 | 2067 | ERCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.017806881 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 17116943 | 7515 | XRCC1 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.098186605 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 16319991 | 2068 | ERCC2 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.083616838 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24933103 | 7515 | XRCC1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.098186605 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24642895 | 7507 | XPA | umls:C0006142 | BeFree | Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both independent and interactive effects on the development of breast cancer among northern Chinese women. | 0.00554839 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23103366 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer. | 0.098186605 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24205095 | 7515 | XRCC1 | umls:C0006142 | BeFree | This meta-analysis suggests the participation of XRCC1 Arg399Gln is a genetic susceptibility for hepatocellular cancer in Asians and breast cancer in Indians. | 0.098186605 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25340946 | 7517 | XRCC3 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.084507108 | 2015 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24933103 | 672 | BRCA1 | umls:C0006142 | BeFree | We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. | 0.36 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21622940 | 4968 | OGG1 | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.026189242 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15066923 | 7517 | XRCC3 | umls:C0006142 | BeFree | Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. | 0.084507108 | 2004 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 19465687 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | 0.098186605 | 2009 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 16492928 | 7515 | XRCC1 | umls:C0006142 | BeFree | Meta-analyses based on our data and published data from studies of two single nucleotide polymorphisms in XRCC1 showed no evidence of an overall association between breast cancer risk and homozygous variants versus wild-type for Q399R (OR, 1.1; 95% CI, 1.0-1.2) or R194W (OR, 1.0; 95% CI, 0.7-1.8), although there was a suggestion for an association in Asian populations for Q399R (OR, 1.6; 95% CI, 1.1-2.4; P = 0.02). | 0.098186605 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21622940 | 7508 | XPC | umls:C0006142 | BeFree | We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study. | 0.023474823 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18669164 | 7515 | XRCC1 | umls:C0006142 | BeFree | The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved in contributing towards breast cancer susceptibility, while rs1799782 (XRCC1) might have protective influence. | 0.098186605 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 17116943 | 595 | CCND1 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.105537483 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25489 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 19465687 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | 0.098186605 | 2009 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 21427728 | 675 | BRCA2 | umls:C0006142 | BeFree | An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P<0.001). | 0.48 | 2011 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | XRCC1 | 19 | 43552260 | C | T,G |
| rs2580520 | 21738711 | 9901 | SRGAP3 | umls:C0006142 | BeFree | The results showed that one SNP (rs2580520) located at a predicted enhancer region of SRGAP2 was consistently associated with a significantly increased risk of breast cancer in a recessive genetic model [Odds Ratio (OR) = 1.66, 95% confidence interval (CI) = 1.16-2.36 for stage 2 samples; OR = 1.51, 95% CI = 1.16-1.97 for combined samples, respectively]. | 0.000542884 | 2011 | SRGAP2B | 1 | 144909849 | C | G |
| rs2588809 | 23535729 | 5890 | RAD51B | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.132453989 | 2013 | RAD51B | 14 | 68193711 | T | C |
| rs2588809 | 24325915 | 22913 | RALY | umls:C0006142 | BeFree | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). | 0.120271442 | 2014 | RAD51B | 14 | 68193711 | T | C |
| rs2588809 | 24325915 | 5195 | PEX14 | umls:C0006142 | BeFree | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). | 0.120271442 | 2014 | RAD51B | 14 | 68193711 | T | C |
| rs26279 | 19781088 | 2956 | MSH6 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.015363904 | 2009 | MSH3 | 5 | 80873118 | G | A |
| rs26279 | 19781088 | 4437 | MSH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.012605878 | 2009 | MSH3 | 5 | 80873118 | G | A |
| rs26279 | 19781088 | 27030 | MLH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.002909916 | 2009 | MSH3 | 5 | 80873118 | G | A |
| rs26279 | 19781088 | 4438 | MSH4 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.000271442 | 2009 | MSH3 | 5 | 80873118 | G | A |
| rs2682818 | 22074121 | 407018 | MIR27A | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.003995683 | 2012 | LIN7A;MIR618;LOC105369869 | 12 | 80935757 | A | C |
| rs2682818 | 22074121 | 406941 | MIR149 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.001357209 | 2012 | LIN7A;MIR618;LOC105369869 | 12 | 80935757 | A | C |
| rs2682818 | 22074121 | 693190 | MIR605 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.000542884 | 2012 | LIN7A;MIR618;LOC105369869 | 12 | 80935757 | A | C |
| rs2735383 | 25566853 | 55655 | NLRP2 | umls:C0006142 | BeFree | NBS1 rs2735383, RAD51 rs963917 and rs963918 were associated with BC risk after stratification according to reproductive factors. | 0.007871814 | 2014 | NBN | 8 | 89935041 | C | G |
| rs2736100 | 25296732 | 7015 | TERT | umls:C0006142 | BeFree | The aim of our study was to investigate the association of allelic variants of three functional polymorphisms rs2853669, rs2736100, and rs7726159 in the telomerase reverse transcriptase (TERT) gene with the risk of the breast cancer and prostate cancer in Russian population. | 0.13842571 | 2014 | TERT | 5 | 1286401 | C | A |
| rs2736108 | 23535731 | 2099 | ESR1 | umls:C0006142 | BeFree | The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. | 0.24 | 2013 | NA | 5 | 1297373 | C | T |
| rs2736108 | 23535731 | 672 | BRCA1 | umls:C0006142 | BeFree | The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. | 0.36 | 2013 | NA | 5 | 1297373 | C | T |
| rs2736108 | 23535731 | 79834 | PEAK1 | umls:C0006142 | BeFree | The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. | 0.000271442 | 2013 | NA | 5 | 1297373 | C | T |
| rs2747648 | 22012767 | 574410 | MIR323B | umls:C0006142 | BeFree | The aim of the study was to analyze the impact of the rs2747648 genetic variant in the estrogen receptor alpha (ER1) gene affecting a putative miR-453-binding site on the risk of breast cancer in postmenopausal women. | 0.000542884 | 2010 | ESR1 | 6 | 152101200 | C | T |
| rs2787487 | 20699374 | 140468 | COX11P1 | umls:C0006142 | BeFree | In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). | 0.001085767 | 2010 | STXBP4 | 17 | 55132021 | G | C |
| rs280519 | 25104439 | 7297 | TYK2 | umls:C0006142 | BeFree | STAT6 rs3024979 and TYK2 rs280519 altered breast cancer-specific mortality among all women. | 0.000542884 | 2014 | TYK2 | 19 | 10362257 | A | G |
| rs280519 | 25104439 | 6778 | STAT6 | umls:C0006142 | BeFree | STAT6 rs3024979 and TYK2 rs280519 altered breast cancer-specific mortality among all women. | 0.004538567 | 2014 | TYK2 | 19 | 10362257 | A | G |
| rs2808668 | 21751184 | 7507 | XPA | umls:C0006142 | BeFree | Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively). | 0.00554839 | 2012 | XPA | 9 | 97690153 | C | T |
| rs2808668 | 21751184 | 2068 | ERCC2 | umls:C0006142 | BeFree | Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively). | 0.083616838 | 2012 | XPA | 9 | 97690153 | C | T |
| rs281439 | 23079714 | 7087 | ICAM5 | umls:C0006142 | BeFree | Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphism may contribute to the susceptibility of breast cancer. | 0.000542884 | 2013 | ICAM5 | 19 | 10289434 | G | C |
| rs281439 | 23079714 | 3383 | ICAM1 | umls:C0006142 | BeFree | Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphism may contribute to the susceptibility of breast cancer. | 0.005895776 | 2013 | ICAM5 | 19 | 10289434 | G | C |
| rs28362491 | 25559835 | 4792 | NFKBIA | umls:C0006142 | BeFree | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. | 0.003181358 | 2015 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
| rs28363284 | 18058226 | 5892 | RAD51D | umls:C0006142 | BeFree | The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women. | 0.008729747 | 2008 | RAD51D;RAD51L3-RFFL | 17 | 35103294 | T | C |
| rs28363284 | 19347880 | 7157 | TP53 | umls:C0006142 | BeFree | Cisplatin resistance conferred by the RAD51D (E233G) genetic variant is dependent upon p53 status in human breast carcinoma cell lines. | 0.24 | 2009 | RAD51D;RAD51L3-RFFL | 17 | 35103294 | T | C |
| rs28363284 | 19347880 | 5892 | RAD51D | umls:C0006142 | BeFree | Cisplatin resistance conferred by the RAD51D (E233G) genetic variant is dependent upon p53 status in human breast carcinoma cell lines. | 0.008729747 | 2009 | RAD51D;RAD51L3-RFFL | 17 | 35103294 | T | C |
| rs28363312 | 21750962 | 5889 | RAD51C | umls:C0006142 | BeFree | In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. | 0.016721114 | 2011 | RAD51C | 17 | 58710932 | C | A |
| rs28366003 | 23053628 | 4502 | MT2A | umls:C0006142 | BeFree | Our data suggest that the rs28366003 SNP in MT2A is associated with risk of breast cancer in Polish population. | 0.001628651 | 2012 | MT2A | 16 | 56608579 | A | G |
| rs283720 | 20699374 | 140468 | COX11P1 | umls:C0006142 | BeFree | In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/COX11), rs16955329 (17q23.2/COX11), and rs2787487 (17q23.2/COX11). | 0.001085767 | 2010 | CASC8;CASC21 | 8 | 127297720 | A | G |
| rs28384991 | 19205873 | 672 | BRCA1 | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.36 | 2009 | BLM | 15 | 90751880 | C | T |
| rs28384991 | 19205873 | 641 | BLM | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.010086957 | 2009 | BLM | 15 | 90751880 | C | T |
| rs2850328 | 22506312 | 5530 | PPP3CA | umls:C0006142 | BeFree | Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway. | 0.001900093 | 2011 | PPP3CA;FLJ20021 | 4 | 101347783 | T | C |
| rs2853669 | 25296732 | 7015 | TERT | umls:C0006142 | BeFree | The aim of our study was to investigate the association of allelic variants of three functional polymorphisms rs2853669, rs2736100, and rs7726159 in the telomerase reverse transcriptase (TERT) gene with the risk of the breast cancer and prostate cancer in Russian population. | 0.13842571 | 2014 | TERT | 5 | 1295234 | A | G |
| rs2853677 | 22527105 | 7015 | TERT | umls:C0006142 | BeFree | A similar reduced trend for breast cancer-specific mortality was observed for carrying the TERT-14 (rs2853677) T-allele (HR=0.57, 95% CI: 0.39-0.84), while carrying the POT1-18 (rs1034794) T-allele significantly increased breast cancer-specific mortality (HR=1.48, 95% CI: 1.00-2.19). | 0.13842571 | 2012 | TERT | 5 | 1287079 | G | A |
| rs2853677 | 22527105 | 25913 | POT1 | umls:C0006142 | BeFree | A similar reduced trend for breast cancer-specific mortality was observed for carrying the TERT-14 (rs2853677) T-allele (HR=0.57, 95% CI: 0.39-0.84), while carrying the POT1-18 (rs1034794) T-allele significantly increased breast cancer-specific mortality (HR=1.48, 95% CI: 1.00-2.19). | 0.008458305 | 2012 | TERT | 5 | 1287079 | G | A |
| rs2854482 | 19846565 | 1646 | AKR1C2 | umls:C0006142 | BeFree | For rs2854482 in AKR1C2, carrying 1 or 2 A alleles was associated with a 2.0-fold increased breast cancer risk in EPT users (95% confidence interval: 1.0, 4.0) but not in never users (P(heterogeneity) = 0.03). | 0.002909916 | 2009 | AKR1C2 | 10 | 5001629 | A | T |
| rs2881766 | 25323936 | 2099 | ESR1 | umls:C0006142 | BeFree | Genetic polymorphism of ESR1 rs2881766 increases breast cancer risk in Korean women. | 0.24 | 2014 | ESR1 | 6 | 151797984 | T | G |
| rs28897672 | 24528374 | 672 | BRCA1 | umls:C0006142 | BeFree | Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T). | 0.36 | 2014 | BRCA1 | 17 | 43106487 | A | T,G,C |
| rs28897672 | 15980987 | 672 | BRCA1 | umls:C0006142 | BeFree | The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) than were either of the truncating BRCA1 mutations 4153delA (OR=2.0) and 5382insC (OR=6.2). | 0.36 | 2005 | BRCA1 | 17 | 43106487 | A | T,G,C |
| rs28897672 | 12938098 | 672 | BRCA1 | umls:C0006142 | UNIPROT | Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. | 0.36 | 2003 | BRCA1 | 17 | 43106487 | A | T,G,C |
| rs28897696 | 17924331 | 672 | BRCA1 | umls:C0006142 | UNIPROT | A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | 0.36 | 2007 | BRCA1 | 17 | 43063903 | G | T,A |
| rs28897706 | 10399947 | 675 | BRCA2 | umls:C0006142 | UNIPROT | Although germline brca2 mutations may account for a small proportion of all OM cases, there may be additional loci that contribute to familial aggregation of OM and to the familial association between OM and breast cancer. | 0.48 | 1999 | BRCA2 | 13 | 32332456 | C | A |
| rs28897708 | 11241844 | 675 | BRCA2 | umls:C0006142 | UNIPROT | An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). | 0.48 | 2001 | BRCA2 | 13 | 32332992 | T | C |
| rs28897749 | 10399947 | 675 | BRCA2 | umls:C0006142 | UNIPROT | Although germline brca2 mutations may account for a small proportion of all OM cases, there may be additional loci that contribute to familial aggregation of OM and to the familial association between OM and breast cancer. | 0.48 | 1999 | BRCA2 | 13 | 32363384 | G | A,C |
| rs28897759 | 24728577 | 675 | BRCA2 | umls:C0006142 | BeFree | We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West Germany. | 0.48 | 2014 | BRCA2 | 13 | 32394803 | A | G,T |
| rs28903098 | 11301010 | 83990 | BRIP1 | umls:C0006142 | UNIPROT | In addition, germline BACH1 mutations affecting the helicase domain were detected in two early-onset breast cancer patients and not in 200 matched controls. | 0.157785297 | 2001 | BRIP1 | 17 | 61859862 | G | T,C |
| rs28904921 | 17001622 | 472 | ATM | umls:C0006142 | BeFree | Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. | 0.127502328 | 2006 | ATM | 11 | 108329202 | T | G |
| rs28934578 | 19507255 | 7157 | TP53 | umls:C0006142 | BeFree | Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or defective wt p53 signaling, we now investigated in human wt p53 breast carcinoma MCF-7 cells, whether single treatment with the p53 transactivation pharmacological inhibitor pifithrin-alpha, transient p53 siRNA interference or stable insertion of a dominant-negative (DN) R175H p53 mutant increase: (i) EGFR/erbB1 activation, (ii) MMP-9 expression and (iii) loss of surface E-cadherin. | 0.24 | 2009 | TP53 | 17 | 7675088 | C | T,A |
| rs28934578 | 19507255 | 4318 | MMP9 | umls:C0006142 | BeFree | Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or defective wt p53 signaling, we now investigated in human wt p53 breast carcinoma MCF-7 cells, whether single treatment with the p53 transactivation pharmacological inhibitor pifithrin-alpha, transient p53 siRNA interference or stable insertion of a dominant-negative (DN) R175H p53 mutant increase: (i) EGFR/erbB1 activation, (ii) MMP-9 expression and (iii) loss of surface E-cadherin. | 0.038240966 | 2009 | TP53 | 17 | 7675088 | C | T,A |
| rs28997576 | 16825437 | 580 | BARD1 | umls:C0006142 | BeFree | These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women. | 0.114180608 | 2006 | BARD1 | 2 | 214752454 | C | T,G |
| rs28997576 | 18481171 | 580 | BARD1 | umls:C0006142 | BeFree | The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis. | 0.114180608 | 2009 | BARD1 | 2 | 214752454 | C | T,G |
| rs28997576 | 21809034 | 580 | BARD1 | umls:C0006142 | BeFree | Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,870 cases and 7,687 controls. | 0.114180608 | 2011 | BARD1 | 2 | 214752454 | C | T,G |
| rs28997576 | 16768547 | 580 | BARD1 | umls:C0006142 | BeFree | The BARD1 Cys557Ser variant and breast cancer risk in Iceland. | 0.114180608 | 2006 | BARD1 | 2 | 214752454 | C | T,G |
| rs28997576 | 16333312 | 580 | BARD1 | umls:C0006142 | BeFree | BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. | 0.114180608 | 2006 | BARD1 | 2 | 214752454 | C | T,G |
| rs2910164 | 19847796 | 574501 | MIR499A | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.004538567 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 23982873 | 442918 | MIR373 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001900093 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 23982873 | 406941 | MIR149 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001357209 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24521023 | 5018 | OXA1L | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.003257302 | 2014 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 23982873 | 406938 | MIR146A | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.008262808 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 18634034 | 5018 | OXA1L | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.003257302 | 2009 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 19847796 | 406938 | MIR146A | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.008262808 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 18634034 | 406938 | MIR146A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.008262808 | 2009 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 20640596 | 5018 | OXA1L | umls:C0006142 | BeFree | hsa-miR-146 rs2910164 and hsa-miR-196a2 rs11614913) with breast cancer. | 0.003257302 | 2011 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 19847796 | 5018 | OXA1L | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.003257302 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 23982873 | 494335 | MIR423 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.000814326 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 18634034 | 574501 | MIR499A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.004538567 | 2009 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24521023 | 406938 | MIR146A | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.008262808 | 2014 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2912774 | 24493630 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.229599312 | 2015 | FGFR2 | 10 | 121589148 | T | G,A |
| rs2981575 | 21060860 | 2263 | FGFR2 | umls:C0006142 | BeFree | FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, ). | 0.229599312 | 2010 | FGFR2 | 10 | 121586602 | G | A |
| rs2981578 | 24143190 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | Genome-wide association study of breast cancer in the Japanese population. | 0.229599312 | 2013 | FGFR2 | 10 | 121580797 | C | T |
| rs2981579 | 23535729 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.229599312 | 2013 | FGFR2 | 10 | 121577821 | A | G |
| rs2981579 | 19330030 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). | 0.229599312 | 2009 | FGFR2 | 10 | 121577821 | A | G |
| rs2981579 | 20453838 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.229599312 | 2010 | FGFR2 | 10 | 121577821 | A | G |
| rs2981579 | 22965832 | 2263 | FGFR2 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.229599312 | 2012 | FGFR2 | 10 | 121577821 | A | G |
| rs2981579 | 22965832 | 2099 | ESR1 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.24 | 2012 | FGFR2 | 10 | 121577821 | A | G |
| rs2981582 | 22965832 | 2099 | ESR1 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.24 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23225170 | 672 | BRCA1 | umls:C0006142 | BeFree | In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; and MAP3K1 rs889312, with BC risk in 351 BRCA1/2-negative Chilean BC cases and 802 controls. | 0.36 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21475998 | 4214 | MAP3K1 | umls:C0006142 | BeFree | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to replicate in the 4-Corner's Breast Cancer Study of Hispanic (N = 565 cases and 714 controls) and non-Hispanic white (NHW) women (N = 1177 cases and 1330 controls). | 0.166482707 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 19028704 | 2099 | ESR1 | umls:C0006142 | BeFree | FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. | 0.24 | 2009 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20299982 | 672 | BRCA1 | umls:C0006142 | BeFree | We conducted a literature review to identify case-control studies of variants in 4 genes known to affect breast cancer risk: CHEK2*1100delC; multiple variants in BRCA1 and BRCA2; and FGFR2 rs2981582. | 0.36 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 17529967 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | Genome-wide association study identifies novel breast cancer susceptibility loci. | 0.229599312 | 2007 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21791674 | 27324 | TOX3 | umls:C0006142 | BeFree | We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P(heterogeneity) = .0016 for FGFR2-rs2981582 and P(heterogeneity) = .0053 for TNRC9-rs3803662). | 0.170011451 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20299982 | 2263 | FGFR2 | umls:C0006142 | BeFree | We conducted a literature review to identify case-control studies of variants in 4 genes known to affect breast cancer risk: CHEK2*1100delC; multiple variants in BRCA1 and BRCA2; and FGFR2 rs2981582. | 0.229599312 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22867275 | 27324 | TOX3 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.170011451 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20664043 | 2099 | ESR1 | umls:C0006142 | BeFree | Odds ratios for breast cancer were greatest for FGFR2-rs2981582 and TNRC9-rs3803662 and, for these 2 SNPs, were significantly greater for estrogen receptor (ER)-positive than for ER-negative disease, both in our data and in meta-analyses of all published data (pooled per-allele ORs [95% confidence intervals] for ER-positive vs ER-negative disease: 1.30 [1.26-1.33] vs 1.05 [1.01-1.10] for FGFR2; interaction P < .001; and 1.24 [1.21-1.28] vs 1.12 [1.07-1.17] for TNRC9; interaction P < .001). | 0.24 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23143756 | 2099 | ESR1 | umls:C0006142 | BeFree | Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. | 0.24 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 19028704 | 2064 | ERBB2 | umls:C0006142 | BeFree | FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. | 0.24 | 2009 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 19028704 | 5241 | PGR | umls:C0006142 | BeFree | FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. | 0.132074704 | 2009 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22867275 | 2263 | FGFR2 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.229599312 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20299982 | 11200 | CHEK2 | umls:C0006142 | BeFree | We conducted a literature review to identify case-control studies of variants in 4 genes known to affect breast cancer risk: CHEK2*1100delC; multiple variants in BRCA1 and BRCA2; and FGFR2 rs2981582. | 0.236916095 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22965832 | 2263 | FGFR2 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.229599312 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22867275 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.166482707 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 17997823 | 2263 | FGFR2 | umls:C0006142 | BeFree | We also noted a correlation between the number of minor alleles of rs2981582 in FGFR2 and the average number of first-degree and second-degree relatives with breast cancer and/or ovarian cancer (P = 0.05). | 0.229599312 | 2007 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20664043 | 2263 | FGFR2 | umls:C0006142 | BeFree | Odds ratios for breast cancer were greatest for FGFR2-rs2981582 and TNRC9-rs3803662 and, for these 2 SNPs, were significantly greater for estrogen receptor (ER)-positive than for ER-negative disease, both in our data and in meta-analyses of all published data (pooled per-allele ORs [95% confidence intervals] for ER-positive vs ER-negative disease: 1.30 [1.26-1.33] vs 1.05 [1.01-1.10] for FGFR2; interaction P < .001; and 1.24 [1.21-1.28] vs 1.12 [1.07-1.17] for TNRC9; interaction P < .001). | 0.229599312 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 24054997 | 2263 | FGFR2 | umls:C0006142 | BeFree | Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women. | 0.229599312 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21791674 | 2099 | ESR1 | umls:C0006142 | BeFree | We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P(heterogeneity) = .0016 for FGFR2-rs2981582 and P(heterogeneity) = .0053 for TNRC9-rs3803662). | 0.24 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20299982 | 675 | BRCA2 | umls:C0006142 | BeFree | We conducted a literature review to identify case-control studies of variants in 4 genes known to affect breast cancer risk: CHEK2*1100delC; multiple variants in BRCA1 and BRCA2; and FGFR2 rs2981582. | 0.48 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 20664043 | 27324 | TOX3 | umls:C0006142 | BeFree | Odds ratios for breast cancer were greatest for FGFR2-rs2981582 and TNRC9-rs3803662 and, for these 2 SNPs, were significantly greater for estrogen receptor (ER)-positive than for ER-negative disease, both in our data and in meta-analyses of all published data (pooled per-allele ORs [95% confidence intervals] for ER-positive vs ER-negative disease: 1.30 [1.26-1.33] vs 1.05 [1.01-1.10] for FGFR2; interaction P < .001; and 1.24 [1.21-1.28] vs 1.12 [1.07-1.17] for TNRC9; interaction P < .001). | 0.170011451 | 2010 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21791674 | 2263 | FGFR2 | umls:C0006142 | BeFree | We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P(heterogeneity) = .0016 for FGFR2-rs2981582 and P(heterogeneity) = .0053 for TNRC9-rs3803662). | 0.229599312 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 18355772 | 27324 | TOX3 | umls:C0006142 | BeFree | A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. | 0.170011451 | 2008 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 23143756 | 2263 | FGFR2 | umls:C0006142 | BeFree | Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. | 0.229599312 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22867275 | 4046 | LSP1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.161672698 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981745 | 19830809 | 672 | BRCA1 | umls:C0006142 | BeFree | Here, we report the association of two frequent and linked single-nucleotide polymorphisms (SNPs) with increased breast cancer risk in women above the age of 60 years: DMBT1 c.-93C>T, rs2981745, located in the DMBT1 promoter; and DMBT1 c.124A>C, p.Thr42Pro, rs11523871(odds ratio [OR]=1.66, 95% confidence interval [CI]=1.21-2.29, P=0.0017; and OR=1.66; 95% CI=1.21-2.28, P=0.0016, respectively), based on 1,195 BRCA1/2 mutation-negative German breast cancer families and 1,466 unrelated German controls. | 0.36 | 2010 | DMBT1 | 10 | 122560678 | T | C |
| rs2981745 | 23107584 | 1755 | DMBT1 | umls:C0006142 | BeFree | Sequence analysis of a 5' RACE product of DMBT1 demonstrated that rs2981745, a putative breast cancer risk locus, appears to be one of the causal variants leading to DASE in DMBT1. | 0.006091273 | 2012 | DMBT1 | 10 | 122560678 | T | C |
| rs2987983 | 24430361 | 1586 | CYP17A1 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.096829396 | 2013 | ESR2 | 14 | 64296935 | A | G |
| rs2987983 | 24430361 | 2100 | ESR2 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.068274001 | 2013 | ESR2 | 14 | 64296935 | A | G |
| rs3020314 | 25228414 | 2099 | ESR1 | umls:C0006142 | BeFree | When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations in ER-positive than in ER-negative breast cancer in only EA women. | 0.24 | 2015 | ESR1 | 6 | 151949537 | C | T |
| rs3024979 | 25104439 | 7297 | TYK2 | umls:C0006142 | BeFree | STAT6 rs3024979 and TYK2 rs280519 altered breast cancer-specific mortality among all women. | 0.000542884 | 2014 | NAB2 | 12 | 57094510 | A | T |
| rs3024979 | 25104439 | 6778 | STAT6 | umls:C0006142 | BeFree | STAT6 rs3024979 and TYK2 rs280519 altered breast cancer-specific mortality among all women. | 0.004538567 | 2014 | NAB2 | 12 | 57094510 | A | T |
| rs3025039 | 19196101 | 7422 | VEGFA | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.105385593 | 2009 | VEGFA | 6 | 43784799 | C | T |
| rs3025039 | 22315135 | 2258 | FGF13 | umls:C0006142 | BeFree | Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109324, rs154765 and rs833052, one polymorphism at the promoter of the VEGFR1 (-710 C/T) and another in the FGF2, rs1449683, gene to explore their association with BC susceptibility. | 0.002442977 | 2012 | VEGFA | 6 | 43784799 | C | T |
| rs3025039 | 19196101 | 1236 | CCR7 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.006167218 | 2009 | VEGFA | 6 | 43784799 | C | T |
| rs3025039 | 19196101 | 7852 | CXCR4 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.028968335 | 2009 | VEGFA | 6 | 43784799 | C | T |
| rs3027188 | 23725643 | 406 | ARNTL | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.001628651 | 2013 | PER1;MIR6883 | 17 | 8145667 | G | C |
| rs3027188 | 23725643 | 5187 | PER1 | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.004810009 | 2013 | PER1;MIR6883 | 17 | 8145667 | G | C |
| rs3027188 | 23725643 | 1407 | CRY1 | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.000542884 | 2013 | PER1;MIR6883 | 17 | 8145667 | G | C |
| rs302864 | 19454617 | 388403 | YPEL2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.005005506 | 2009 | TEX14 | 17 | 58680223 | G | A |
| rs302864 | 19454617 | 5414 | 4-Sep | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | TEX14 | 17 | 58680223 | G | A |
| rs302864 | 19454617 | 56155 | TEX14 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | TEX14 | 17 | 58680223 | G | A |
| rs302864 | 19454617 | 11011 | TLK2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002909916 | 2009 | TEX14 | 17 | 58680223 | G | A |
| rs304270 | 21750962 | 5889 | RAD51C | umls:C0006142 | BeFree | In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. | 0.016721114 | 2011 | RAD51C;LOC105371843 | 17 | 58724780 | C | T |
| rs304283 | 21750962 | 5889 | RAD51C | umls:C0006142 | BeFree | In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. | 0.016721114 | 2011 | RAD51C | 17 | 58708364 | C | T |
| rs3104746 | 24177593 | 2064 | ERBB2 | umls:C0006142 | BeFree | Several SNPs in TNRC9/TOX3 were associated with luminal A (ER/PR+, HER2-) or basal-like breast cancer (ER-, PR-, HER2-, HER1, or CK 5/6+), and one SNP (rs3104746) was associated with both. | 0.24 | 2014 | CASC16 | 16 | 52567188 | T | A |
| rs3104746 | 24177593 | 27324 | TOX3 | umls:C0006142 | BeFree | Several SNPs in TNRC9/TOX3 were associated with luminal A (ER/PR+, HER2-) or basal-like breast cancer (ER-, PR-, HER2-, HER1, or CK 5/6+), and one SNP (rs3104746) was associated with both. | 0.170011451 | 2014 | CASC16 | 16 | 52567188 | T | A |
| rs3112612 | 21263130 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. | 0.127915422 | 2011 | CASC16 | 16 | 52601252 | G | A |
| rs311499 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | NA | 20 | 63586236 | T | C |
| rs3124591 | 25120811 | 4851 | NOTCH1 | umls:C0006142 | BeFree | Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression in IDC and DCIS, this variant may affect breast cancer risk through mechanisms in the latter stage other than alterations in Notch1 protein expression. | 0.011400559 | 2014 | NOTCH1 | 9 | 136495945 | C | T |
| rs3130932 | 25223935 | 388112 | NANOGP8 | umls:C0006142 | BeFree | On MDR analysis, we found combination of SNPs SOX2 rs11915160, OCT4 rs3130932, and NANOG rs11055786 to be the best interaction model for predicting breast cancer risk [p for permutation test <10(-3), OR = 2.04 (1.43-2.910] and response to NACT [p for permutation test = 0.005, OR = 2.09 (1.24-3.52)]. | 0.001085767 | 2014 | POU5F1 | 6 | 31166166 | C | A |
| rs3134615 | 25390939 | 841 | CASP8 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.049197125 | 2014 | MYCL;LOC105378668 | 1 | 39896394 | C | A |
| rs3134615 | 25390939 | 374659 | HDDC3 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | MYCL;LOC105378668 | 1 | 39896394 | C | A |
| rs3134615 | 25390939 | 29102 | DROSHA | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | MYCL;LOC105378668 | 1 | 39896394 | C | A |
| rs3134615 | 25390939 | 4610 | MYCL | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.005005506 | 2014 | MYCL;LOC105378668 | 1 | 39896394 | C | A |
| rs3134615 | 25390939 | 389125 | MUSTN1 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | MYCL;LOC105378668 | 1 | 39896394 | C | A |
| rs3136685 | 19196101 | 7422 | VEGFA | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.105385593 | 2009 | CCR7 | 17 | 40563547 | C | T |
| rs3136685 | 19196101 | 1236 | CCR7 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.006167218 | 2009 | CCR7 | 17 | 40563547 | C | T |
| rs3136685 | 19196101 | 7852 | CXCR4 | umls:C0006142 | BeFree | Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence. | 0.028968335 | 2009 | CCR7 | 17 | 40563547 | C | T |
| rs3176336 | 18174243 | 1027 | CDKN1B | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.034408443 | 2008 | CDKN1A;LOC105375039 | 6 | 36681039 | A | T |
| rs3176336 | 18174243 | 1029 | CDKN2A | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.043366024 | 2008 | CDKN1A;LOC105375039 | 6 | 36681039 | A | T |
| rs3176336 | 18174243 | 898 | CCNE1 | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.013539756 | 2008 | CDKN1A;LOC105375039 | 6 | 36681039 | A | T |
| rs3204953 | 21455670 | 10459 | MAD2L2 | umls:C0006142 | BeFree | Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). | 0.002638474 | 2011 | REV3L;LOC105377943 | 6 | 111307423 | C | T |
| rs3204953 | 21455670 | 5980 | REV3L | umls:C0006142 | BeFree | Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). | 0.002638474 | 2011 | REV3L;LOC105377943 | 6 | 111307423 | C | T |
| rs3218005 | 18174243 | 1029 | CDKN2A | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.043366024 | 2008 | CDKN2B-AS1 | 9 | 22000248 | T | C |
| rs3218005 | 18174243 | 898 | CCNE1 | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.013539756 | 2008 | CDKN2B-AS1 | 9 | 22000248 | T | C |
| rs3218005 | 18174243 | 1027 | CDKN1B | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.034408443 | 2008 | CDKN2B-AS1 | 9 | 22000248 | T | C |
| rs3218458 | 14578164 | 7517 | XRCC3 | umls:C0006142 | BeFree | We prospectively assessed the associations of candidate polymorphisms G31479A (R188H) in XRCC2, A4541G (5'-UTR), A17893G (IVS5-14) and C18067T (T241 M) in XRCC3, and C299T (5'-UTR) and T1977C (D501D) in Ligase IV with breast cancer risk in a nested case-control study within the Nurses' Health Study (incident cases, n=1004; controls, n=1385). | 0.084507108 | 2004 | XRCC2 | 7 | 152663099 | G | A |
| rs3218536 | 24621646 | 7516 | XRCC2 | umls:C0006142 | BeFree | No significant association was observed between the XRCC2 Arg188His polymorphism and breast cancer susceptibility (dominant model: OR = 0.94, 95%CI = 0.86-1.04, P = 0.232). | 0.036200253 | 2014 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 19064565 | 7516 | XRCC2 | umls:C0006142 | BeFree | None of these tagging SNPs was associated with breast cancer risk, with the exception of XRCC2 rs3218536, R188H, which showed some evidence of a protective association for the rare allele [per allele odds ratio, 0.89; 95% confidence intervals (95% CI), 0.80-0.99; P trend = 0.03]. | 0.036200253 | 2008 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 20127279 | 7516 | XRCC2 | umls:C0006142 | BeFree | XRCC2 Arg188His polymorphism is not directly associated with breast cancer risk: evidence from 37,369 subjects. | 0.036200253 | 2010 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 25556451 | 7516 | XRCC2 | umls:C0006142 | BeFree | Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan. | 0.036200253 | 2015 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 16214912 | 7516 | XRCC2 | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.036200253 | 2005 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 21701125 | 7517 | XRCC3 | umls:C0006142 | BeFree | Instead, significant association was identified between XRCC2 Arg188His or XRCC3 Thr241Met polymorphism and breast cancer progression, assessed by the histological grading. | 0.084507108 | 2011 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 12023985 | 7516 | XRCC2 | umls:C0006142 | BeFree | A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer. | 0.036200253 | 2002 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 20004634 | 7516 | XRCC2 | umls:C0006142 | BeFree | However, when the population was stratified according to breast feeding (women that breast fed and women that never breast fed) it is observed, in women that never breast fed, that the heterozygous individuals for the XRCC2 (Ex3+442G>A, R188H, rs3218536) polymorphism have a decreased risk for breast cancer [adjusted OR=0.45; 95% CI=0.22-0.92] (P=0.03). | 0.036200253 | 2010 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 16214912 | 4683 | NBN | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.193953213 | 2005 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 16214912 | 7517 | XRCC3 | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.084507108 | 2005 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 14578164 | 7517 | XRCC3 | umls:C0006142 | BeFree | We prospectively assessed the associations of candidate polymorphisms G31479A (R188H) in XRCC2, A4541G (5'-UTR), A17893G (IVS5-14) and C18067T (T241 M) in XRCC3, and C299T (5'-UTR) and T1977C (D501D) in Ligase IV with breast cancer risk in a nested case-control study within the Nurses' Health Study (incident cases, n=1004; controls, n=1385). | 0.084507108 | 2004 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 14578164 | 7516 | XRCC2 | umls:C0006142 | BeFree | We observed that the XRCC2 R188H polymorphism modified the association of plasma alpha-carotene level and breast cancer risk (test for ordinal interaction, P=0.03); the significantly decreased risk seen overall for women in the highest quartile of plasma alpha-carotene was only present among 188H non-carriers (the top quartile versus the bottom quartile; multivariate odds ratio, 0.55; 95% confidence interval, 0.40-0.75). | 0.036200253 | 2004 | XRCC2 | 7 | 152648922 | C | T |
| rs334348 | 20332227 | 672 | BRCA1 | umls:C0006142 | BeFree | To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control population study and observed that germline occurrence of rs799917-BRCA1 and rs334348-TGFR1 significantly varies among populations with different risks of developing BC. | 0.36 | 2010 | TGFBR1 | 9 | 99150189 | A | G |
| rs34087264 | 24510587 | 7453 | WARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | AARS;DDX19B | 16 | 70289223 | C | T |
| rs34087264 | 24510587 | 16 | AARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | AARS;DDX19B | 16 | 70289223 | C | T |
| rs34087264 | 24510587 | 5917 | RARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | AARS;DDX19B | 16 | 70289223 | C | T |
| rs34087264 | 24510587 | 3035 | HARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | AARS;DDX19B | 16 | 70289223 | C | T |
| rs34301344 | 16570116 | 115761 | ARL11 | umls:C0006142 | BeFree | This study presents analysis of the germ-line G446A polymorphism in the ARLTS1 gene among 1686 consecutively collected patients with breast cancer, prostate cancer, malignant melanoma, thyroid papillary cancer or laryngeal cancer in Poland. | 0.00554839 | 2006 | ARL11 | 13 | 49630893 | G | A |
| rs34330 | 18174243 | 898 | CCNE1 | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.013539756 | 2008 | CDKN1B;GPR19 | 12 | 12717761 | T | C |
| rs34330 | 18174243 | 1029 | CDKN2A | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.043366024 | 2008 | CDKN1B;GPR19 | 12 | 12717761 | T | C |
| rs34330 | 18174243 | 1027 | CDKN1B | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.034408443 | 2008 | CDKN1B;GPR19 | 12 | 12717761 | T | C |
| rs34434221 | 16956908 | 11214 | AKAP13 | umls:C0006142 | BeFree | Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). | 0.002638474 | 2007 | AKAP13 | 15 | 85579644 | A | C |
| rs34434221 | 16956908 | 11216 | AKAP10 | umls:C0006142 | BeFree | Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). | 0.002638474 | 2007 | AKAP13 | 15 | 85579644 | A | C |
| rs345299 | 25956309 | 10451 | VAV3 | umls:C0006142 | BeFree | Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16 x 10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. | 0.001357209 | 2015 | VAV3 | 1 | 107905511 | A | C |
| rs34632023 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34632023 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34632023 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34632023 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34632023 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34632023 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34632023 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | APEX1;OSGEP | 14 | 20455971 | G | A |
| rs34637584 | 25401981 | 120892 | LRRK2 | umls:C0006142 | BeFree | This multinational study from 5 centers demonstrates that LRRK2 G2019S mutation carriers have an overall increased risk of cancer, especially for hormone-related cancer and breast cancer in women. | 0.000542884 | 2015 | LRRK2 | 12 | 40340400 | G | A |
| rs34767364 | 17957789 | 4683 | NBN | umls:C0006142 | BeFree | Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were reduced to 70% in cells from a heterozygous breast cancer patient carrying R215W and to 15% in cells from a NBS patient compound heterozygous for 657del5/R215W suggesting that the R215W substitution may be associated with protein instability. | 0.193953213 | 2008 | NBN | 8 | 89971232 | G | C,A |
| rs351855 | 20066896 | 2264 | FGFR4 | umls:C0006142 | BeFree | Polymorphism of FGFR4 Gly388Arg does not confer an increased risk to breast cancer development. | 0.019978416 | 2009 | FGFR4 | 5 | 177093242 | G | A |
| rs351855 | 14710228 | 2264 | FGFR4 | umls:C0006142 | BeFree | G388R mutation of the FGFR4 gene is not relevant to breast cancer prognosis. | 0.019978416 | 2004 | FGFR4 | 5 | 177093242 | G | A |
| rs35490896 | 18281469 | 63967 | CLSPN | umls:C0006142 | BeFree | A separate analysis of the CLSPN c.3839C>T (rs35490896) variant that was observed more frequently in breast tumors than in pancreatic tumors or normal controls failed to detect a significant association with breast cancer risk in a Mayo Clinic breast cancer case-control study. | 0.003452799 | 2008 | CLSPN | 1 | 35736984 | G | A |
| rs361525 | 19423537 | 637 | BID | umls:C0006142 | BeFree | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. | 0.005819831 | 2009 | TNF | 6 | 31575324 | G | A |
| rs361525 | 25559835 | 4792 | NFKBIA | umls:C0006142 | BeFree | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. | 0.003181358 | 2015 | TNF | 6 | 31575324 | G | A |
| rs362962 | 23922822 | 5241 | PGR | umls:C0006142 | BeFree | The rs362962 TT genotype also associated with risk of estrogen receptor or progesterone receptor positive breast cancer. | 0.132074704 | 2013 | GRM1 | 6 | 146312682 | T | C |
| rs368087026 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | SLC19A1 | 21 | 45530890 | G | A |
| rs368377040 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368377040 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368377040 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368377040 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368377040 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368377040 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368377040 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | APEX1;OSGEP | 14 | 20456828 | G | A |
| rs368647662 | 12873994 | 2944 | GSTM1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.101986792 | 2003 | TXNRD1 | 12 | 104265777 | C | T |
| rs368647662 | 12873994 | 2950 | GSTP1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.099000931 | 2003 | TXNRD1 | 12 | 104265777 | C | T |
| rs368647662 | 12873994 | 1666 | DECR1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.001357209 | 2003 | TXNRD1 | 12 | 104265777 | C | T |
| rs368647662 | 12873994 | 7296 | TXNRD1 | umls:C0006142 | BeFree | Trends in the association between urinary ITC and breast cancer were more consistent with homozygous deletion of GSTM1 or GSTT1, the AAgenotype of GSTP1 (A313G), or with the C allele of NADPH quinine oxidoreductase (C609T), although interactions were not statistically significant. | 0.009001189 | 2003 | TXNRD1 | 12 | 104265777 | C | T |
| rs369042519 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs369042519 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs369042519 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs369042519 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs369042519 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs369042519 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs369042519 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | MSH6 | 2 | 47803438 | C | T |
| rs3731239 | 18174243 | 1029 | CDKN2A | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.043366024 | 2008 | CDKN2A | 9 | 21974219 | A | G |
| rs3731239 | 25239644 | 1029 | CDKN2A | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.043366024 | 2015 | CDKN2A | 9 | 21974219 | A | G |
| rs3731239 | 18174243 | 898 | CCNE1 | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.013539756 | 2008 | CDKN2A | 9 | 21974219 | A | G |
| rs3731239 | 18174243 | 1027 | CDKN1B | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.034408443 | 2008 | CDKN2A | 9 | 21974219 | A | G |
| rs3731239 | 25239644 | 1993 | ELAVL2 | umls:C0006142 | BeFree | ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). | 0.001357209 | 2015 | CDKN2A | 9 | 21974219 | A | G |
| rs3731249 | 18714178 | 1029 | CDKN2A | umls:C0006142 | BeFree | In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma. | 0.043366024 | 2008 | CDKN2A | 9 | 21970917 | C | T |
| rs3733890 | 19635752 | 635 | BHMT | umls:C0006142 | BeFree | The betaine-homocysteine methyltransferase gene (BHMT) rs3733890 polymorphism was associated with reduced breast cancer-specific mortality (hazard ratio, 0.64; 95% confidence interval, 0.42-0.97). | 0.003181358 | 2009 | BHMT | 5 | 79126136 | G | A |
| rs3733890 | 18230680 | 635 | BHMT | umls:C0006142 | BeFree | The BHMT rs3733890 polymorphism was also examined but was found not to be associated with breast cancer risk. | 0.003181358 | 2008 | BHMT | 5 | 79126136 | G | A |
| rs3734802 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | NA | NA | NA | NA | NA |
| rs3734802 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | NA | NA | NA | NA | NA |
| rs3734802 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | NA | NA | NA | NA | NA |
| rs3734802 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | NA | NA | NA | NA | NA |
| rs3734805 | 21263130 | 80129 | CCDC170 | umls:C0006142 | GWASCAT | Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. | 0.123181358 | 2011 | CCDC170 | 6 | 151618215 | A | C |
| rs3734805 | 21263130 | 2099 | ESR1 | umls:C0006142 | BeFree | We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR1), which were associated with breast cancer in subjects of northern European ancestry (rs3734805: OR = 1.19, 95% CI = 1.11 to 1.27, P = 1.35 × 10(-7); rs9383938: OR = 1.18, 95% CI = 1.11 to 1.26, P = 1.41 × 10(-7)). | 0.24 | 2011 | CCDC170 | 6 | 151618215 | A | C |
| rs373587423 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs373587423 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs373587423 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs373587423 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs373587423 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs373587423 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs373587423 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC4 | 16 | 13935425 | T | C |
| rs3736265 | 16704985 | 133522 | PPARGC1B | umls:C0006142 | BeFree | The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P(trend) = 0.0004). | 0.004267125 | 2006 | PPARGC1A | 4 | 23813084 | G | A,T |
| rs3736265 | 16704985 | 10891 | PPARGC1A | umls:C0006142 | BeFree | The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P(trend) = 0.0004). | 0.006091273 | 2006 | PPARGC1A | 4 | 23813084 | G | A,T |
| rs3738414 | 19903360 | 79679 | VTCN1 | umls:C0006142 | BeFree | We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. | 0.004267125 | 2009 | VTCN1 | 1 | 117210906 | G | A |
| rs374486449 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs374486449 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs374486449 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs374486449 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs374486449 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs374486449 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs374486449 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | MSH6 | 2 | 47798814 | A | C |
| rs3746444 | 18634034 | 5018 | OXA1L | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.003257302 | 2009 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 19847796 | 574501 | MIR499A | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.004538567 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 23271127 | 574501 | MIR499A | umls:C0006142 | BeFree | Our findings support the view that miR-499 rs3746444 T>C polymorphism is associated with breast cancer and the C allele can increase cancer susceptibility in Asian. | 0.004538567 | 2013 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 22970328 | 574501 | MIR499A | umls:C0006142 | BeFree | In the subgroup analysis by cancer types, miR-499 rs3746444 polymorphism was significantly associated with breast cancer. | 0.004538567 | 2012 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 18634034 | 406938 | MIR146A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.008262808 | 2009 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 24521023 | 574501 | MIR499A | umls:C0006142 | BeFree | hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. | 0.004538567 | 2014 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 25613069 | 5241 | PGR | umls:C0006142 | BeFree | Furthermore, rs3746444 AG (adjusted OR = 1.61, 95 % CI = 1.06-2.45) and AG/GG (adjusted OR = 1.49, 95 % CI = 1.02-2.18) genotypes were observed to be associated with increased risk of lymph node involvement and breast cancer with negative PR expression, separately. | 0.132074704 | 2015 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 24521023 | 406938 | MIR146A | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.008262808 | 2014 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 19847796 | 5018 | OXA1L | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.003257302 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 23053947 | 574501 | MIR499A | umls:C0006142 | BeFree | miR-499 rs3746444 polymorphism is associated with cancer development among Asians and related to breast cancer susceptibility. | 0.004538567 | 2012 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 24521023 | 5018 | OXA1L | umls:C0006142 | BeFree | Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a (rs2910164 G>C), hsa-miR-499 (rs3746444 T>C) and hsa-miRNA-196a2 (rs11614913 C>T and rs185070757 T>G), and susceptibility to breast cancer in an Iranian population. | 0.003257302 | 2014 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 19847796 | 406938 | MIR146A | umls:C0006142 | BeFree | Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 in hsa-mir-499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa-mir-146a was shown to have an effect on age of breast cancer diagnosis. | 0.008262808 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 23982873 | 693190 | MIR605 | umls:C0006142 | BeFree | In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913*T, miR-499 rs3746444*T, miR-605 rs2043556*A, and miR-27a rs895919*C alleles might be protective factors for breast cancer. | 0.000542884 | 2013 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 18634034 | 574501 | MIR499A | umls:C0006142 | BeFree | We evaluated the associations of selected four SNPs (rs2910164, rs2292832, rs11614913, and rs3746444) in pre-miRNAs (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2, and hsa-mir-499) with breast cancer risk in a case-control study of 1,009 breast cancer cases and 1,093 cancer-free controls in a population of Chinese women and we found that hsa-mir-196a2 rs11614913:T>C and hsa-mir-499 rs3746444:A>G variant genotypes were associated with significantly increased risks of breast cancer (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.02-1.48 for rs11614913:T>C; and OR, 1.25; 95% CI, 1.02-1.51 for rs3746444:A>G in a dominant genetic model) in a dose-effect manner (P for trend was 0.010 and 0.037, respectively). | 0.004538567 | 2009 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3749474 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | CLOCK;TMEM165 | 4 | 55434518 | C | T |
| rs3749474 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | CLOCK;TMEM165 | 4 | 55434518 | C | T |
| rs3749474 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | CLOCK;TMEM165 | 4 | 55434518 | C | T |
| rs3749474 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | CLOCK;TMEM165 | 4 | 55434518 | C | T |
| rs3749474 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | CLOCK;TMEM165 | 4 | 55434518 | C | T |
| rs3749474 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | CLOCK;TMEM165 | 4 | 55434518 | C | T |
| rs3750420 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750420 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750420 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750420 | 23822714 | 15 | AANAT | umls:C0006142 | BeFree | After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420). | 0.000814326 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750420 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750420 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750420 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | RORB;LOC105376088 | 9 | 74634466 | C | T |
| rs3750817 | 22951594 | 2263 | FGFR2 | umls:C0006142 | GWASCAT | In addition, rs3750817 in intron 2 of the fibroblast growth factor receptor 2 gene, which was reported to be associated with breast cancer susceptibility, was significantly replicated with P(combined) of 8.47 × 10(-8) with OR=1.22. | 0.229599312 | 2012 | FGFR2 | 10 | 121573063 | C | T |
| rs3750817 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | FGFR2 | 10 | 121573063 | C | T |
| rs3750817 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | FGFR2 | 10 | 121573063 | C | T |
| rs3750817 | 22951594 | 2263 | FGFR2 | umls:C0006142 | BeFree | In addition, rs3750817 in intron 2 of the fibroblast growth factor receptor 2 gene, which was reported to be associated with breast cancer susceptibility, was significantly replicated with P(combined) of 8.47 × 10(-8) with OR=1.22. | 0.229599312 | 2012 | FGFR2 | 10 | 121573063 | C | T |
| rs3750817 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | FGFR2 | 10 | 121573063 | C | T |
| rs3750913 | 15684076 | 4926 | NUMA1 | umls:C0006142 | BeFree | Although the potential functional relevance of the A794G variation requires further biological validation, we conclude that variations in the NuMA gene are likely responsible for the observed increased breast cancer risk. | 0.005276948 | 2005 | NUMA1;LOC100128494 | 11 | 72015122 | G | C |
| rs3757318 | 25338983 | 80129 | CCDC170 | umls:C0006142 | BeFree | Current evidence on the association between rs3757318 of C6orf97 and breast cancer risk: a meta-analysis. | 0.123181358 | 2015 | CCDC170 | 6 | 151592978 | G | A |
| rs3757318 | 23486537 | 2099 | ESR1 | umls:C0006142 | BeFree | For the first time, rs3757318 at 6q25.1, located next to the gene encoding estrogen receptor α (ESR1) was found to be strongly associated with breast cancer (OR=1.33, 95% CI=1.18-1.49, P=1.94 × 10(-6)) in the Chinese population. | 0.24 | 2013 | CCDC170 | 6 | 151592978 | G | A |
| rs3757318 | 23535729 | 80129 | CCDC170 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.123181358 | 2013 | CCDC170 | 6 | 151592978 | G | A |
| rs3757318 | 25862352 | 1879 | EBF1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.120271442 | 2015 | CCDC170 | 6 | 151592978 | G | A |
| rs3757318 | 25862352 | 79068 | FTO | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.121900093 | 2015 | CCDC170 | 6 | 151592978 | G | A |
| rs3757318 | 25862352 | 100422922 | MIR1972-2 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.000271442 | 2015 | CCDC170 | 6 | 151592978 | G | A |
| rs3757318 | 25862352 | 2099 | ESR1 | umls:C0006142 | BeFree | Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. | 0.24 | 2015 | CCDC170 | 6 | 151592978 | G | A |
| rs3760138 | 23822714 | 15 | AANAT | umls:C0006142 | BeFree | After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420). | 0.000814326 | 2013 | AANAT | 17 | 76467027 | G | T |
| rs3760982 | 23535729 | 3783 | KCNN4 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | KCNN4 | 19 | 43782361 | A | G |
| rs3761548 | 24338714 | 50943 | FOXP3 | umls:C0006142 | BeFree | Foxp3 promoter polymorphism (rs3761548) in breast cancer progression: a study from India. | 0.004614512 | 2013 | FOXP3 | X | 49261784 | G | T |
| rs3763511 | 23516639 | 2099 | ESR1 | umls:C0006142 | BeFree | Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively. | 0.24 | 2013 | DKK4 | 8 | 42378340 | G | A |
| rs3763511 | 23516639 | 8313 | AXIN2 | umls:C0006142 | BeFree | Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively. | 0.005819831 | 2013 | DKK4 | 8 | 42378340 | G | A |
| rs3763511 | 23516639 | 27121 | DKK4 | umls:C0006142 | BeFree | Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively. | 0.000271442 | 2013 | DKK4 | 8 | 42378340 | G | A |
| rs377559301 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs377559301 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs377559301 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs377559301 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs377559301 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs377559301 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs377559301 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | ERCC2;KLC3 | 19 | 45351067 | C | T |
| rs3784099 | 22232737 | 5890 | RAD51B | umls:C0006142 | GWASCAT | This study provides strong evidence suggesting that the RAD51L1 gene and a chromosome 16 locus influence breast cancer prognosis. | 0.132453989 | 2012 | RAD51B | 14 | 68283210 | G | A |
| rs3785074 | 19766477 | 7014 | TERF2 | umls:C0006142 | BeFree | The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI 0.31-0.83) and rs10509637 (TNKS2, OR 1.33, 95% CI 1.08-1.62). | 0.007915422 | 2009 | TERF2 | 16 | 69373083 | A | G |
| rs3785074 | 23629941 | 7011 | TEP1 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.005005506 | 2013 | TERF2 | 16 | 69373083 | A | G |
| rs3785074 | 23629941 | 7014 | TERF2 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007915422 | 2013 | TERF2 | 16 | 69373083 | A | G |
| rs3785074 | 23629941 | 7015 | TERT | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.13842571 | 2013 | TERF2 | 16 | 69373083 | A | G |
| rs3785074 | 23629941 | 8658 | TNKS | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007372538 | 2013 | TERF2 | 16 | 69373083 | A | G |
| rs3787268 | 23570558 | 9377 | COX5A | umls:C0006142 | BeFree | Multivariate Cox regression and stepwise COX regression analyses suggested that rs3787268 may be a candidate independent biomarker to predict breast cancer survival in this population. | 0.001628651 | 2013 | MMP9 | 20 | 46013092 | G | A |
| rs3794624 | 21792883 | 1666 | DECR1 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.001357209 | 2011 | CYBA | 16 | 88650666 | G | A |
| rs3794624 | 21792883 | 1535 | CYBA | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.000542884 | 2011 | CYBA | 16 | 88650666 | G | A |
| rs3794624 | 21792883 | 25828 | TXN2 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.00764398 | 2011 | CYBA | 16 | 88650666 | G | A |
| rs3794624 | 21792883 | 7295 | TXN | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.01062984 | 2011 | CYBA | 16 | 88650666 | G | A |
| rs3798758 | 25116933 | 2099 | ESR1 | umls:C0006142 | BeFree | Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and rs2228480 and rs3798758 in ESR1-with variant allele attributed odds ratios (ORs) of 1.38 (95% confidence interval (CI): 1.20 to 1.57, P=2.21×10(-6)), 0.84 (95% CI: 0.72 to 0.98, P=0.025) and 1.19 (95% CI: 1.04 to 1.37, P=0.013), respectively. | 0.24 | 2014 | ESR1 | 6 | 152100719 | C | A |
| rs3803662 | 23001122 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. | 0.127915422 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21791674 | 2099 | ESR1 | umls:C0006142 | BeFree | We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P(heterogeneity) = .0016 for FGFR2-rs2981582 and P(heterogeneity) = .0053 for TNRC9-rs3803662). | 0.24 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 20664043 | 2099 | ESR1 | umls:C0006142 | BeFree | Odds ratios for breast cancer were greatest for FGFR2-rs2981582 and TNRC9-rs3803662 and, for these 2 SNPs, were significantly greater for estrogen receptor (ER)-positive than for ER-negative disease, both in our data and in meta-analyses of all published data (pooled per-allele ORs [95% confidence intervals] for ER-positive vs ER-negative disease: 1.30 [1.26-1.33] vs 1.05 [1.01-1.10] for FGFR2; interaction P < .001; and 1.24 [1.21-1.28] vs 1.12 [1.07-1.17] for TNRC9; interaction P < .001). | 0.24 | 2010 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21791674 | 27324 | TOX3 | umls:C0006142 | BeFree | We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P(heterogeneity) = .0016 for FGFR2-rs2981582 and P(heterogeneity) = .0053 for TNRC9-rs3803662). | 0.170011451 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21791674 | 2263 | FGFR2 | umls:C0006142 | BeFree | We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P(heterogeneity) = .0016 for FGFR2-rs2981582 and P(heterogeneity) = .0053 for TNRC9-rs3803662). | 0.229599312 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23535729 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.127915422 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21475998 | 4214 | MAP3K1 | umls:C0006142 | BeFree | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to replicate in the 4-Corner's Breast Cancer Study of Hispanic (N = 565 cases and 714 controls) and non-Hispanic white (NHW) women (N = 1177 cases and 1330 controls). | 0.166482707 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23270421 | 27324 | TOX3 | umls:C0006142 | BeFree | The results suggest that the effect of the risk allele of rs3803662 is strongest in luminal A tumours and that the expression levels of TOX3 and/or LOC643714 affect the progression of breast cancer. | 0.170011451 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23270421 | 643714 | CASC16 | umls:C0006142 | BeFree | The risk allele of SNP rs3803662 and the mRNA level of its closest genes TOX3 and LOC643714 predict adverse outcome for breast cancer patients. | 0.127915422 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 24532140 | 672 | BRCA1 | umls:C0006142 | BeFree | In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs13387042 (2q35), and rs13281615 (8q24) with BC risk in 344 Chilean BRCA1/2-negative BC cases and in 801 controls. | 0.36 | 2014 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22867275 | 2263 | FGFR2 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.229599312 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 18355772 | 27324 | TOX3 | umls:C0006142 | BeFree | A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. | 0.170011451 | 2008 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 20664043 | 2263 | FGFR2 | umls:C0006142 | BeFree | Odds ratios for breast cancer were greatest for FGFR2-rs2981582 and TNRC9-rs3803662 and, for these 2 SNPs, were significantly greater for estrogen receptor (ER)-positive than for ER-negative disease, both in our data and in meta-analyses of all published data (pooled per-allele ORs [95% confidence intervals] for ER-positive vs ER-negative disease: 1.30 [1.26-1.33] vs 1.05 [1.01-1.10] for FGFR2; interaction P < .001; and 1.24 [1.21-1.28] vs 1.12 [1.07-1.17] for TNRC9; interaction P < .001). | 0.229599312 | 2010 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 17529967 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association study identifies novel breast cancer susceptibility loci. | 0.127915422 | 2007 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 20453838 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.127915422 | 2010 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 24069142 | 27324 | TOX3 | umls:C0006142 | BeFree | Recently, genetic polymorphism (rs3803662C>T) in TOX3 was reported to induce the risk of breast cancer. | 0.170011451 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 17529974 | 27324 | TOX3 | umls:C0006142 | BeFree | rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone. | 0.170011451 | 2007 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 24143190 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association study of breast cancer in the Japanese population. | 0.127915422 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 27324 | TOX3 | umls:C0006142 | BeFree | With the exception of rs3803662 (TOX3), there was no evidence that any of the SNPs associated with BC susceptibility were associated with the BC survival. | 0.170011451 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22867275 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.166482707 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22867275 | 4046 | LSP1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.161672698 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21996731 | 27324 | TOX3 | umls:C0006142 | BeFree | rs3803662 of TNRC9 gene has been shown to be the SNP with the strongest association with BC, in particular, this polymorphism seems to be correlated with bone metastases and estrogen receptor positivity. | 0.170011451 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 25611573 | 4046 | LSP1 | umls:C0006142 | BeFree | In conclusion, we show that there is little overlap between the breast cancer risk single nucleotide polymorphisms (SNPs) identified so far and the SNPs associated with breast cancer prognosis, with the possible exceptions of LSP1-rs3817198 and TNRC9-rs3803662. | 0.161672698 | 2014 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 17529974 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. | 0.127915422 | 2007 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 20872241 | 643714 | CASC16 | umls:C0006142 | GWASCAT | A combined analysis of genome-wide association studies in breast cancer. | 0.127915422 | 2011 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 23535733 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. | 0.127915422 | 2013 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 20664043 | 27324 | TOX3 | umls:C0006142 | BeFree | Odds ratios for breast cancer were greatest for FGFR2-rs2981582 and TNRC9-rs3803662 and, for these 2 SNPs, were significantly greater for estrogen receptor (ER)-positive than for ER-negative disease, both in our data and in meta-analyses of all published data (pooled per-allele ORs [95% confidence intervals] for ER-positive vs ER-negative disease: 1.30 [1.26-1.33] vs 1.05 [1.01-1.10] for FGFR2; interaction P < .001; and 1.24 [1.21-1.28] vs 1.12 [1.07-1.17] for TNRC9; interaction P < .001). | 0.170011451 | 2010 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 22867275 | 27324 | TOX3 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.170011451 | 2012 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 19330030 | 643714 | CASC16 | umls:C0006142 | GWASCAT | A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). | 0.127915422 | 2009 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 25611573 | 27324 | TOX3 | umls:C0006142 | BeFree | In conclusion, we show that there is little overlap between the breast cancer risk single nucleotide polymorphisms (SNPs) identified so far and the SNPs associated with breast cancer prognosis, with the possible exceptions of LSP1-rs3817198 and TNRC9-rs3803662. | 0.170011451 | 2014 | CASC16 | 16 | 52552429 | A | G |
| rs3814903 | 25029565 | 344805 | TMPRSS7 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000271442 | 2014 | TMPRSS3 | 21 | 42397008 | G | T |
| rs3814903 | 25029565 | 56649 | TMPRSS4 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000814326 | 2014 | TMPRSS3 | 21 | 42397008 | G | T |
| rs3814903 | 25029565 | 3082 | HGF | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.091053172 | 2014 | TMPRSS3 | 21 | 42397008 | G | T |
| rs3816358 | 25229211 | 15 | AANAT | umls:C0006142 | BeFree | For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population. | 0.000814326 | 2015 | ARNTL;LOC105376559 | 11 | 13369925 | C | A |
| rs3816358 | 25229211 | 406 | ARNTL | umls:C0006142 | BeFree | For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population. | 0.001628651 | 2015 | ARNTL;LOC105376559 | 11 | 13369925 | C | A |
| rs3816360 | 23725643 | 1407 | CRY1 | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.000542884 | 2013 | ARNTL | 11 | 13346203 | T | C |
| rs3816360 | 23725643 | 5187 | PER1 | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.004810009 | 2013 | ARNTL | 11 | 13346203 | T | C |
| rs3816360 | 23725643 | 406 | ARNTL | umls:C0006142 | BeFree | Following permutation analysis, two SNPs (rs3816360 in ARNTL and rs11113179 in CRY1) displayed significant associations with breast cancer and one SNP (rs3027188 in PER1) was marginally significant; however, none were significant following adjustment for the false discovery rate. | 0.001628651 | 2013 | ARNTL | 11 | 13346203 | T | C |
| rs3817198 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23535729 | 102724536 | PRR33 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22867275 | 2263 | FGFR2 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.229599312 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21791674 | 81847 | RNF146 | umls:C0006142 | BeFree | Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. | 0.123181358 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 20145138 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.166482707 | 2010 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22867275 | 27324 | TOX3 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.170011451 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 24681604 | 4046 | LSP1 | umls:C0006142 | BeFree | Our findings demonstrate a novel pleiotropic association between the breast cancer LSP1 risk region marked by variant rs3817198 and lung cancer risk. | 0.161672698 | 2014 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23535729 | 4046 | LSP1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.161672698 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22867275 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.166482707 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 20145138 | 4046 | LSP1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.161672698 | 2010 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21791674 | 4046 | LSP1 | umls:C0006142 | BeFree | Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. | 0.161672698 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21127985 | 4046 | LSP1 | umls:C0006142 | BeFree | Association of a LSP1 gene rs3817198T>C polymorphism with breast cancer risk: evidence from 33,920 cases and 35,671 controls. | 0.161672698 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 20145138 | 841 | CASP8 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.049197125 | 2010 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21127985 | 675 | BRCA2 | umls:C0006142 | BeFree | There was significant association between LSP1 rs3817198T>C polymorphism and breast cancer risk in BRCA1 and BRCA2 positive cohort in all comparison models (the allele contrast model: OR = 1.08, 95% CI = 1.03-1.13; CC vs. TT: OR = 1.16, 95% CI = 1.05-1.29; TC vs. TT: OR = 1.09, 95% CI = 1.01-1.16; the dominant model: OR = 1.10, 95% CI = 1.03-1.17; the recessive model: OR = 1.12, 95% CI = 1.01-1.23). | 0.48 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 25611573 | 4046 | LSP1 | umls:C0006142 | BeFree | In conclusion, we show that there is little overlap between the breast cancer risk single nucleotide polymorphisms (SNPs) identified so far and the SNPs associated with breast cancer prognosis, with the possible exceptions of LSP1-rs3817198 and TNRC9-rs3803662. | 0.161672698 | 2014 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 25611573 | 27324 | TOX3 | umls:C0006142 | BeFree | In conclusion, we show that there is little overlap between the breast cancer risk single nucleotide polymorphisms (SNPs) identified so far and the SNPs associated with breast cancer prognosis, with the possible exceptions of LSP1-rs3817198 and TNRC9-rs3803662. | 0.170011451 | 2014 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 17529967 | 102724536 | PRR33 | umls:C0006142 | GWASCAT | Genome-wide association study identifies novel breast cancer susceptibility loci. | 0.12 | 2007 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 22867275 | 4046 | LSP1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.161672698 | 2012 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 21127985 | 672 | BRCA1 | umls:C0006142 | BeFree | There was significant association between LSP1 rs3817198T>C polymorphism and breast cancer risk in BRCA1 and BRCA2 positive cohort in all comparison models (the allele contrast model: OR = 1.08, 95% CI = 1.03-1.13; CC vs. TT: OR = 1.16, 95% CI = 1.05-1.29; TC vs. TT: OR = 1.09, 95% CI = 1.01-1.16; the dominant model: OR = 1.10, 95% CI = 1.03-1.17; the recessive model: OR = 1.12, 95% CI = 1.01-1.23). | 0.36 | 2011 | LSP1 | 11 | 1887776 | T | C |
| rs3817198 | 17529967 | 4046 | LSP1 | umls:C0006142 | GWASCAT | Genome-wide association study identifies novel breast cancer susceptibility loci. | 0.161672698 | 2007 | LSP1 | 11 | 1887776 | T | C |
| rs3822625 | 24493630 | 4214 | MAP3K1 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.166482707 | 2015 | MAP3K1 | 5 | 56882284 | A | G |
| rs3824830 | 19377877 | 6241 | RRM2 | umls:C0006142 | BeFree | Two variants in EIF3A (rs10787899 and rs3824830; P < 0.01) and four variants in SART1 (rs660118, rs679581, rs754532, and rs735942; P(trend) < or = 0.02) were significantly associated with an altered risk of breast cancer along with single variants in RRM2, PSCD3, C11orf51, CDC16, SNW1, MFAP1, and CDC2 (P < 0.05). | 0.001628651 | 2010 | EIF3A | 10 | 119081149 | A | G |
| rs3834129 | 22659694 | 841 | CASP8 | umls:C0006142 | BeFree | Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/del promoter polymorphism (rs3834129) in breast cancer. | 0.049197125 | 2012 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3834129 | 20652397 | 675 | BRCA2 | umls:C0006142 | BeFree | These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. | 0.48 | 2011 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3834129 | 20652397 | 841 | CASP8 | umls:C0006142 | BeFree | The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. | 0.049197125 | 2011 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3834129 | 20652397 | 672 | BRCA1 | umls:C0006142 | BeFree | The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. | 0.36 | 2011 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3834129 | 18362937 | 841 | CASP8 | umls:C0006142 | BeFree | Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifically, the D302H variant (rs1045485) with breast cancer in the European population and the -652 6N ins/del promoter variant (rs3834129) with multiple tumours including colorectal cancer (CRC) in the Chinese population. | 0.049197125 | 2008 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3835 | 23098447 | 2547 | XRCC6 | umls:C0006142 | BeFree | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A>G), rs132788 (G>T) and rs132793 (G>A) in XRCC6 gene might be risk factors for breast cancer, while the rs132788 (G>T) and rs6002421 (A>G) in XRCC6 gene might be protective. | 0.014549579 | 2012 | XRCC5 | 2 | 216201914 | G | A |
| rs3838646 | 24894672 | 100133941 | CD24 | umls:C0006142 | BeFree | Interestingly, a protective role of the CD24 rs3838646 polymorphism was found in the risk of breast cancer, but lack of statistical significance (del allele vs. TG allele: OR = 0.89; 95 % CI, 0.79-1.01; P OR = 0.063; del/del vs. | 0.017915164 | 2014 | TTTY14 | Y | 18991182 | CA | - |
| rs3856806 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | PPARG | 3 | 12434058 | C | T |
| rs3864659 | 21766210 | 27161 | AGO2 | umls:C0006142 | BeFree | In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. | 0.001085767 | 2011 | AGO2 | 8 | 140545763 | A | C |
| rs3864659 | 21766210 | 1655 | DDX5 | umls:C0006142 | BeFree | In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. | 0.001628651 | 2011 | AGO2 | 8 | 140545763 | A | C |
| rs386493716 | 24489692 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln polymorphism confers risk of breast cancer in American population: a meta-analysis of 10846 cases and 11723 controls. | 0.098186605 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 16319991 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.098186605 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 15066923 | 7517 | XRCC3 | umls:C0006142 | BeFree | Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. | 0.084507108 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 25340946 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.098186605 | 2015 | NA | NA | NA | NA | NA |
| rs386493716 | 24292986 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 R399Q polymorphism and risk of normal tissue injury after radiotherapy in breast cancer patients. | 0.098186605 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 17116943 | 7515 | XRCC1 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.098186605 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 22296363 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln gene polymorphism and breast cancer risk: a meta-analysis based on case-control studies. | 0.098186605 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 23103366 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer. | 0.098186605 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 16319991 | 2068 | ERCC2 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.083616838 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 16492928 | 7515 | XRCC1 | umls:C0006142 | BeFree | Meta-analyses based on our data and published data from studies of two single nucleotide polymorphisms in XRCC1 showed no evidence of an overall association between breast cancer risk and homozygous variants versus wild-type for Q399R (OR, 1.1; 95% CI, 1.0-1.2) or R194W (OR, 1.0; 95% CI, 0.7-1.8), although there was a suggestion for an association in Asian populations for Q399R (OR, 1.6; 95% CI, 1.1-2.4; P = 0.02). | 0.098186605 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 19465687 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | 0.098186605 | 2009 | NA | NA | NA | NA | NA |
| rs386493716 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 25340946 | 7517 | XRCC3 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.084507108 | 2015 | NA | NA | NA | NA | NA |
| rs386493716 | 15066923 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. | 0.098186605 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 24205095 | 7515 | XRCC1 | umls:C0006142 | BeFree | This meta-analysis suggests the participation of XRCC1 Arg399Gln is a genetic susceptibility for hepatocellular cancer in Asians and breast cancer in Indians. | 0.098186605 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 17116943 | 595 | CCND1 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.105537483 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 17116943 | 7517 | XRCC3 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.084507108 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 14693738 | 7515 | XRCC1 | umls:C0006142 | BeFree | A population-based case-control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer. | 0.098186605 | 2003 | NA | NA | NA | NA | NA |
| rs386493716 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 4524 | MTHFR | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.100901024 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 9429 | ABCG2 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.017100838 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.005624334 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 22134752 | 6573 | SLC19A1 | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.005624334 | 2012 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 2944 | GSTM1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.101986792 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 373156 | GSTK1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.013843535 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | NA | NA | NA | NA | NA |
| rs386514057 | 22134752 | 4524 | MTHFR | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.100901024 | 2012 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 27306 | HPGDS | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.016829396 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 2952 | GSTT1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.09601507 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 17180579 | 2950 | GSTP1 | umls:C0006142 | BeFree | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. | 0.099000931 | 2007 | NA | NA | NA | NA | NA |
| rs386514057 | 22134752 | 6470 | SHMT1 | umls:C0006142 | BeFree | Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. | 0.008458305 | 2012 | NA | NA | NA | NA | NA |
| rs386543959 | 17932347 | 3552 | IL1A | umls:C0006142 | BeFree | Assuming a dominant genetic model, IL1A A114S significantly modified the dose-response relationship between cumulative personal diagnostic radiation and breast cancer risk, adjusted for occupational dose (P(interaction) = 0.004). | 0.01827382 | 2007 | NA | NA | NA | NA | NA |
| rs386545044 | 18930998 | 11200 | CHEK2 | umls:C0006142 | BeFree | Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. | 0.236916095 | 2009 | NA | NA | NA | NA | NA |
| rs386545044 | 18058223 | 11200 | CHEK2 | umls:C0006142 | BeFree | The CHEK2 gene mutations I157T (c.470T>C) and IVS2+1G>A affecting the forkhead-associated domain (FHA) have been shown to increase the risk of breast cancer development in several populations. | 0.236916095 | 2008 | NA | NA | NA | NA | NA |
| rs386545044 | 22799331 | 1111 | CHEK1 | umls:C0006142 | BeFree | The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of breast cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. | 0.020173913 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 17106448 | 11200 | CHEK2 | umls:C0006142 | BeFree | Protein-truncating mutations in CHEK2 have been reported to confer higher risks of cancer of the breast and the prostate than the missense I157T variant. | 0.236916095 | 2007 | NA | NA | NA | NA | NA |
| rs386545044 | 15239132 | 11200 | CHEK2 | umls:C0006142 | BeFree | CHEK2 variant I157T may be associated with increased breast cancer risk. | 0.236916095 | 2004 | NA | NA | NA | NA | NA |
| rs386545044 | 23713947 | 11200 | CHEK2 | umls:C0006142 | BeFree | In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008). | 0.236916095 | 2013 | NA | NA | NA | NA | NA |
| rs386545044 | 22799331 | 11200 | CHEK2 | umls:C0006142 | BeFree | The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis. | 0.236916095 | 2012 | NA | NA | NA | NA | NA |
| rs386545546 | 20183911 | 7515 | XRCC1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.098186605 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 16319991 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.098186605 | 2006 | NA | NA | NA | NA | NA |
| rs386545546 | 16492928 | 7515 | XRCC1 | umls:C0006142 | BeFree | Meta-analyses based on our data and published data from studies of two single nucleotide polymorphisms in XRCC1 showed no evidence of an overall association between breast cancer risk and homozygous variants versus wild-type for Q399R (OR, 1.1; 95% CI, 1.0-1.2) or R194W (OR, 1.0; 95% CI, 0.7-1.8), although there was a suggestion for an association in Asian populations for Q399R (OR, 1.6; 95% CI, 1.1-2.4; P = 0.02). | 0.098186605 | 2006 | NA | NA | NA | NA | NA |
| rs386545546 | 20183911 | 4968 | OGG1 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.026189242 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 16319991 | 2068 | ERCC2 | umls:C0006142 | BeFree | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. | 0.083616838 | 2006 | NA | NA | NA | NA | NA |
| rs386545546 | 23103366 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer. | 0.098186605 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 19465687 | 7515 | XRCC1 | umls:C0006142 | BeFree | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | 0.098186605 | 2009 | NA | NA | NA | NA | NA |
| rs386545546 | 14652281 | 7515 | XRCC1 | umls:C0006142 | BeFree | In addition, breast cancer risk was significantly associated with an increasing number of combined variant alleles of XRCC1 Arg194Trp, XRCC3 Thr241Met, and ERCC4/XPF Arg415Gln in a four-level model (P(trend) = 0.04): OR = 1.0 for those without a variant allele (referent group); OR = 1.04 (95% CI = 0.67-1.61) for those with one variant allele; OR = 1.38 (95% CI = 0.83-2.29) for those with two variant alleles; and age-adjusted OR = 2.60 (95% CI = 1.03-6.59) for those with three or more variant alleles after adjustment for age, family history, age at menarche, age at first live birth, and body mass index. | 0.098186605 | 2003 | NA | NA | NA | NA | NA |
| rs386545546 | 12496039 | 4968 | OGG1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.026189242 | 2002 | NA | NA | NA | NA | NA |
| rs386545546 | 20183911 | 2072 | ERCC4 | umls:C0006142 | BeFree | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. | 0.031933128 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 12496039 | 675 | BRCA2 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.48 | 2002 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 25862854 | 7515 | XRCC1 | umls:C0006142 | BeFree | The present study aimed to investigate the association between Arg194Trp (XRCC1), Ala222Val (MTHFR) and Arg521Lys (EGFR) polymorphisms (SNPs) and their susceptibility to gastric and breast carcinoma cancer in patients from Brazilian Amazon, controlling population structure interference. | 0.098186605 | 2015 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 25340946 | 7517 | XRCC3 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.084507108 | 2015 | NA | NA | NA | NA | NA |
| rs386545546 | 25340946 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.098186605 | 2015 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 12496039 | 7515 | XRCC1 | umls:C0006142 | BeFree | Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. | 0.098186605 | 2002 | NA | NA | NA | NA | NA |
| rs386545618 | 23217001 | 4524 | MTHFR | umls:C0006142 | BeFree | Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies. | 0.100901024 | 2012 | NA | NA | NA | NA | NA |
| rs386553773 | 16956908 | 11216 | AKAP10 | umls:C0006142 | BeFree | Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). | 0.002638474 | 2007 | NA | NA | NA | NA | NA |
| rs386553773 | 16956908 | 11214 | AKAP13 | umls:C0006142 | BeFree | Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). | 0.002638474 | 2007 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | NA | NA | NA | NA | NA |
| rs386572987 | 19452310 | 2739 | GLO1 | umls:C0006142 | BeFree | Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. | 0.009001189 | 2009 | NA | NA | NA | NA | NA |
| rs386572987 | 20712647 | 2739 | GLO1 | umls:C0006142 | BeFree | Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. | 0.009001189 | 2010 | NA | NA | NA | NA | NA |
| rs386572987 | 20712647 | 5241 | PGR | umls:C0006142 | BeFree | Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. | 0.132074704 | 2010 | NA | NA | NA | NA | NA |
| rs386576380 | 15980987 | 672 | BRCA1 | umls:C0006142 | BeFree | The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) than were either of the truncating BRCA1 mutations 4153delA (OR=2.0) and 5382insC (OR=6.2). | 0.36 | 2005 | NA | NA | NA | NA | NA |
| rs386576380 | 24528374 | 672 | BRCA1 | umls:C0006142 | BeFree | Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T). | 0.36 | 2014 | NA | NA | NA | NA | NA |
| rs386584847 | 18714178 | 1029 | CDKN2A | umls:C0006142 | BeFree | In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma. | 0.043366024 | 2008 | NA | NA | NA | NA | NA |
| rs386584867 | 20614206 | 993 | CDC25A | umls:C0006142 | BeFree | These data suggest that 263C/T and -51C/G polymorphisms of CDC25A gene could be candidate markers for earlier diagnosis and targets for breast cancer therapy. | 0.003257302 | 2010 | NA | NA | NA | NA | NA |
| rs386596027 | 15330212 | 6041 | RNASEL | umls:C0006142 | BeFree | Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. | 0.003181358 | 2004 | NA | NA | NA | NA | NA |
| rs386596107 | 20082851 | 6648 | SOD2 | umls:C0006142 | BeFree | We studied the possible association between Ala16Val manganese-dependent superoxide dismutase (MnSOD) gene genotypes and breast cancer lymph node status because previous investigations suggested an association between the AA genotype and breast cancer. | 0.073953213 | 2010 | NA | NA | NA | NA | NA |
| rs386596107 | 20052533 | 6648 | SOD2 | umls:C0006142 | BeFree | No association between SOD2 Val16Ala polymorphism and breast cancer susceptibility: a meta-analysis based on 9,710 cases and 11,041 controls. | 0.073953213 | 2010 | NA | NA | NA | NA | NA |
| rs386596107 | 20143154 | 6648 | SOD2 | umls:C0006142 | BeFree | Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: a meta-analysis involving 58,448 subjects. | 0.073953213 | 2010 | NA | NA | NA | NA | NA |
| rs386596107 | 21056286 | 6648 | SOD2 | umls:C0006142 | BeFree | Our findings suggest that the SOD2 Val16Ala variant is not related to the risk of breast cancer in Korean women; however, it may affect the association between plasma γ-tocopherol levels and the risk of breast cancer. | 0.073953213 | 2010 | NA | NA | NA | NA | NA |
| rs386597005 | 19214745 | 1576 | CYP3A4 | umls:C0006142 | BeFree | In multivariate analyses, we observed a significantly decreased risk of breast cancer associated with the CYP3A4 M445T minor allele (rs4986910, OR = 0.3; 95% CI 0.1-0.9). | 0.049588119 | 2009 | NA | NA | NA | NA | NA |
| rs386602101 | 16982738 | 6462 | SHBG | umls:C0006142 | BeFree | Implications of gene-environment interaction in studies of gene variants in breast cancer: an example of dietary isoflavones and the D356N polymorphism in the sex hormone-binding globulin gene. | 0.022888332 | 2006 | NA | NA | NA | NA | NA |
| rs386654966 | 14550946 | 580 | BARD1 | umls:C0006142 | BeFree | Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer. | 0.114180608 | 2003 | NA | NA | NA | NA | NA |
| rs386654966 | 16333312 | 580 | BARD1 | umls:C0006142 | BeFree | BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. | 0.114180608 | 2006 | NA | NA | NA | NA | NA |
| rs386675647 | 21658222 | 7364 | UGT2B7 | umls:C0006142 | BeFree | Impact of UGT2B7 His268Tyr polymorphism on the outcome of adjuvant epirubicin treatment in breast cancer. | 0.010553895 | 2011 | NA | NA | NA | NA | NA |
| rs3903529 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | RORB | 9 | 74649312 | T | A |
| rs3903529 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | RORB | 9 | 74649312 | T | A |
| rs3903529 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | RORB | 9 | 74649312 | T | A |
| rs3903529 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | RORB | 9 | 74649312 | T | A |
| rs3903529 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | RORB | 9 | 74649312 | T | A |
| rs3903529 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | RORB | 9 | 74649312 | T | A |
| rs3923086 | 23516639 | 2099 | ESR1 | umls:C0006142 | BeFree | Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively. | 0.24 | 2013 | AXIN2 | 17 | 65553370 | A | C |
| rs3923086 | 23516639 | 8313 | AXIN2 | umls:C0006142 | BeFree | Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively. | 0.005819831 | 2013 | AXIN2 | 17 | 65553370 | A | C |
| rs3923086 | 23516639 | 27121 | DKK4 | umls:C0006142 | BeFree | Apart from these five variants, rs3923086 in AXIN2 and rs3763511 in DKK4 that did not show any association in the overall population were significantly associated with early on-set and estrogen receptor negative breast cancers, respectively. | 0.000271442 | 2013 | AXIN2 | 17 | 65553370 | A | C |
| rs397507444 | 23155246 | 4548 | MTR | umls:C0006142 | BeFree | Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a population in Northeast Brazil. | 0.028284832 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 21052845 | 4524 | MTHFR | umls:C0006142 | BeFree | Lack of association between methylenetetrahydrofolate reductase gene A1298C polymorphism and breast cancer susceptibility. | 0.100901024 | 2011 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18842997 | 4552 | MTRR | umls:C0006142 | BeFree | Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A1793G) did not differ among the study groups; however, MDI tended to be higher in BRCA carriers with breast cancer than those without and was significantly increased in MTHFR 677T allele carriers relative to wild-type carriers (P=0.017). | 0.016916611 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22134752 | 4548 | MTR | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.028284832 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22134752 | 7298 | TYMS | umls:C0006142 | BeFree | In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-UTR, MTR A2756G and cSHMT C1420T and also the folate carrier (RFC1 G80A) and breast cancer risk in a northeastern Brazilian population. | 0.035190431 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24023349 | 4524 | MTHFR | umls:C0006142 | BeFree | The MTHFR A1298C genotype was associated with a decreased risk of BC [OR=0.68; 95% CI: 0.49-0.95]. | 0.100901024 | 2013 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 23155246 | 4524 | MTHFR | umls:C0006142 | BeFree | Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a population in Northeast Brazil. | 0.100901024 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17896178 | 4548 | MTR | umls:C0006142 | BeFree | Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. | 0.028284832 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22901194 | 4524 | MTHFR | umls:C0006142 | BeFree | Interactions between MTHFR C677T-A1298C variants and folic acid deficiency affect breast cancer risk in a Chinese population. | 0.100901024 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17896178 | 4524 | MTHFR | umls:C0006142 | BeFree | Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. | 0.100901024 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397509205 | 18311584 | 672 | BRCA1 | umls:C0006142 | BeFree | BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer. | 0.36 | 2009 | BRCA1 | 17 | 43070984 | C | A |
| rs397509318 | 11248061 | 672 | BRCA1 | umls:C0006142 | BeFree | A preliminary report suggested that a single nucleotide polymorphism in the 5' untranslated region of RAD51 (135C/G) increases breast cancer risk in BRCA1 and BRCA2 carriers. | 0.36 | 2001 | BRCA1 | 17 | 43094744 | C | T,A |
| rs406113 | 25416100 | 257202 | GPX6 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000271442 | 2014 | GPX6 | 6 | 28515705 | A | C |
| rs406113 | 25416100 | 4968 | OGG1 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.026189242 | 2014 | GPX6 | 6 | 28515705 | A | C |
| rs406113 | 25416100 | 6649 | SOD3 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000542884 | 2014 | GPX6 | 6 | 28515705 | A | C |
| rs4073 | 25559835 | 4792 | NFKBIA | umls:C0006142 | BeFree | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. | 0.003181358 | 2015 | CXCL8 | 4 | 73740307 | A | T |
| rs41293459 | 22889855 | 672 | BRCA1 | umls:C0006142 | BeFree | Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). | 0.36 | 2012 | BRCA1 | 17 | 43063930 | C | T,G,A |
| rs41322052 | 25040995 | 4846 | NOS3 | umls:C0006142 | BeFree | This meta-analysis indicated that the eNOS T-786C polymorphism is associated with elevated cancer risk; the G894T polymorphism contributes to susceptibility to breast cancer and cancer generally in females; and the 4a/b polymorphism may be associated with prostate cancer risk. | 0.033290337 | 2015 | NOS3 | 7 | 150993018 | C | T |
| rs4149056 | 25701109 | 10599 | SLCO1B1 | umls:C0006142 | BeFree | These results suggest that the OATP1B1 T521C mutation may be an independent prognostic marker for breast cancer patients using TAM therapy. | 0.001085767 | 2015 | SLCO1B1 | 12 | 21178615 | T | C |
| rs4149578 | 25332681 | 7099 | TLR4 | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.005624334 | 2015 | TNFRSF1A | 12 | 6338271 | C | T |
| rs4149578 | 25332681 | 7132 | TNFRSF1A | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.003724241 | 2015 | TNFRSF1A | 12 | 6338271 | C | T |
| rs4149578 | 25332681 | 7096 | TLR1 | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.003452799 | 2015 | TNFRSF1A | 12 | 6338271 | C | T |
| rs417309 | 23629745 | 54487 | DGCR8 | umls:C0006142 | BeFree | Our findings suggested that DGCR8 rs417309 G > A might affect breast cancer risk through the interruption of miRNA binding. | 0.000271442 | 2013 | DGCR8 | 22 | 20111021 | G | A |
| rs4238989 | 23822714 | 15 | AANAT | umls:C0006142 | BeFree | After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420). | 0.000814326 | 2013 | AANAT | 17 | 76467306 | C | G |
| rs4244285 | 18024866 | 1557 | CYP2C19 | umls:C0006142 | GAD | [Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes.] | 0.02036941 | 2007 | CYP2C19 | 10 | 94781859 | G | A,C |
| rs4245739 | 23535733 | 4194 | MDM4 | umls:C0006142 | GWASCAT | SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). | 0.133148762 | 2013 | MDM4 | 1 | 204549714 | C | A |
| rs4245739 | 23793604 | 4194 | MDM4 | umls:C0006142 | BeFree | Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, contributes to breast cancer susceptibility. | 0.133148762 | 2013 | MDM4 | 1 | 204549714 | C | A |
| rs4245739 | 23793604 | 7157 | TP53 | umls:C0006142 | BeFree | Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, contributes to breast cancer susceptibility. | 0.24 | 2013 | MDM4 | 1 | 204549714 | C | A |
| rs4246742 | 23629941 | 7014 | TERF2 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007915422 | 2013 | TERT | 5 | 1267241 | T | A |
| rs4246742 | 23629941 | 7015 | TERT | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.13842571 | 2013 | TERT | 5 | 1267241 | T | A |
| rs4246742 | 23629941 | 7011 | TEP1 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.005005506 | 2013 | TERT | 5 | 1267241 | T | A |
| rs4246742 | 23629941 | 8658 | TNKS | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007372538 | 2013 | TERT | 5 | 1267241 | T | A |
| rs425535 | 23991131 | 7124 | TNF | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.070293647 | 2013 | CXCL5;LOC105377274 | 4 | 73998280 | T | C |
| rs425535 | 23991131 | 6374 | CXCL5 | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.000814326 | 2013 | CXCL5;LOC105377274 | 4 | 73998280 | T | C |
| rs425535 | 23991131 | 140913 | PPIAP10 | umls:C0006142 | BeFree | Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast cancer risk was associated with CXCL5-rs425535 (OR=0.61, P=0.02), while among EA women, there were associations with TNFA-rs1799724 (OR =2.31, P =0.002) and CRP-rs1205 (OR=0.54, P=0.01). | 0.000542884 | 2013 | CXCL5;LOC105377274 | 4 | 73998280 | T | C |
| rs4415084 | 22965832 | 2099 | ESR1 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.24 | 2012 | LOC102723839 | 5 | 44662413 | C | T |
| rs4415084 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | LOC102723839 | 5 | 44662413 | C | T |
| rs4415084 | 20095854 | 10884 | MRPS30 | umls:C0006142 | BeFree | In exploratory analyses, we found that the radiation-associated breast cancer risk varied significantly by linked markers in 5p12 (rs930395, rs10941679, rs2067980 and rs4415084) in the mitochondrial ribosomal protein S30 (MRPS30) gene (P(interaction) = 0.04). | 0.003724241 | 2010 | LOC102723839 | 5 | 44662413 | C | T |
| rs4415084 | 20140701 | 2099 | ESR1 | umls:C0006142 | BeFree | We confirmed the reported association of rs4415084 SNP with overall risk of breast cancer (P = 0.06), and, as in the original study, observed a stronger association with estrogen receptor positive tumors (P = 0.03). | 0.24 | 2010 | LOC102723839 | 5 | 44662413 | C | T |
| rs4415084 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | LOC102723839 | 5 | 44662413 | C | T |
| rs4415084 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | LOC102723839 | 5 | 44662413 | C | T |
| rs4415084 | 22965832 | 2263 | FGFR2 | umls:C0006142 | BeFree | Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2, rs4415084/MRPS30, rs1219648/FGFR2, rs2981579/FGFR2, and rs11200014/FGFR2). | 0.229599312 | 2012 | LOC102723839 | 5 | 44662413 | C | T |
| rs458685 | 17903305 | 2897 | GRIK1 | umls:C0006142 | GAD | [A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.] | 0.002367032 | 2007 | GRIK1 | 21 | 29805194 | A | G |
| rs4590952 | 25220285 | 4254 | KITLG | umls:C0006142 | BeFree | A functional p53 responsive polymorphism in KITLG, rs4590952, does not affect the risk of breast cancer. | 0.003452799 | 2014 | KITLG | 12 | 88559882 | A | G |
| rs4590952 | 25220285 | 7157 | TP53 | umls:C0006142 | BeFree | A functional p53 responsive polymorphism in KITLG, rs4590952, does not affect the risk of breast cancer. | 0.24 | 2014 | KITLG | 12 | 88559882 | A | G |
| rs462779 | 21455670 | 5980 | REV3L | umls:C0006142 | BeFree | Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). | 0.002638474 | 2011 | REV3L | 6 | 111374684 | G | A |
| rs462779 | 21455670 | 10459 | MAD2L2 | umls:C0006142 | BeFree | Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). | 0.002638474 | 2011 | REV3L | 6 | 111374684 | G | A |
| rs4644 | 21750908 | 3958 | LGALS3 | umls:C0006142 | BeFree | Mutation of galectin-3 at position 191 (rs4644) substituting proline to histidine (gal-3H(64)) resulted in the acquisition of resistance to drug-induced apoptosis by breast cancer cells. | 0.006243163 | 2011 | LGALS3 | 14 | 55138217 | C | A |
| rs4644 | 19074869 | 3958 | LGALS3 | umls:C0006142 | BeFree | Racial disparity in breast cancer and functional germ line mutation in galectin-3 (rs4644): a pilot study. | 0.006243163 | 2008 | LGALS3 | 14 | 55138217 | C | A |
| rs4646 | 18049890 | 2064 | ERBB2 | umls:C0006142 | BeFree | SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes are associated with an altered DFS. | 0.24 | 2008 | CYP19A1;PIRC66 | 15 | 51210647 | A | C |
| rs4646 | 25793413 | 1588 | CYP19A1 | umls:C0006142 | BeFree | The present study indicates that CYP19 rs4646 polymorphism is related to DFS in early breast cancer and that the prognosis index of the homozygous for the minor allele (AA) may depend on menopause status. | 0.113930234 | 2015 | CYP19A1;PIRC66 | 15 | 51210647 | A | C |
| rs4646903 | 17429315 | 1543 | CYP1A1 | umls:C0006142 | BeFree | Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women. | 0.103886885 | 2007 | CYP1A1 | 15 | 74719300 | A | T,G |
| rs4646903 | 17429315 | 1312 | COMT | umls:C0006142 | BeFree | Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women. | 0.101172466 | 2007 | CYP1A1 | 15 | 74719300 | A | T,G |
| rs4680 | 17429315 | 1543 | CYP1A1 | umls:C0006142 | BeFree | Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women. | 0.103886885 | 2007 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23000097 | 1543 | CYP1A1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.103886885 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22199302 | 3292 | HSD17B1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.04194414 | 2011 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 24146281 | 1312 | COMT | umls:C0006142 | BeFree | Catechol-O-methyltransferase Val158Met polymorphism and breast cancer risk in Asian population. | 0.101172466 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 17429315 | 1312 | COMT | umls:C0006142 | BeFree | Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women. | 0.101172466 | 2007 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 18820009 | 7157 | TP53 | umls:C0006142 | BeFree | Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype of CYP19A1 codon 39 (rs2236722), the methionine (Met) allele of COMT codon 158 (rs4680) or Pro allele of p53 codon 72 (rs1042522) were more frequent in ER-positive than ER-negative breast cancer, especially in patients less than 50-year old. | 0.24 | 2008 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 21974969 | 1312 | COMT | umls:C0006142 | BeFree | Influence of catechol-o-methyltransferase genotype (Val158Met) on endocrine, sympathetic nervous and mucosal immune systems in breast cancer survivors. | 0.101172466 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 15386537 | 1312 | COMT | umls:C0006142 | BeFree | When MnSOD Ala was combined with either cytochrome P450 1B1 CYP1B1*1 and catechol O-methyltransferase COMT-L (V158M) genotypes, the risk for developing breast cancer was significantly increased in patients with a body mass index (BMI) greater than 24 kg m(-2) (OR: 1.42 (95%CI=1.04-1.93)). | 0.101172466 | 2005 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 17047485 | 1312 | COMT | umls:C0006142 | BeFree | A functional Val158Met polymorphism in the COMT gene has been known as a susceptible marker for breast cancer. | 0.101172466 | 2006 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23000097 | 1312 | COMT | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101172466 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 19074205 | 1312 | COMT | umls:C0006142 | BeFree | COMT rs4680 genotypes did not have a modifying effect on the association of green tea intake with breast cancer risk. | 0.101172466 | 2009 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 14504192 | 1312 | COMT | umls:C0006142 | BeFree | Val158Met Polymorphism in catechol-O-methyltransferase gene associated with risk factors for breast cancer. | 0.101172466 | 2003 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22199302 | 2099 | ESR1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.24 | 2011 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23000097 | 2950 | GSTP1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.099000931 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 11142424 | 1312 | COMT | umls:C0006142 | BeFree | A valine-108-methionine polymorphism in exon 4 of the catechol-O-methyltransferase (COMT) gene causes a 3- to 4-fold reduction in enzyme activity and has been associated with an increased risk of breast cancer. | 0.101172466 | 2000 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23000097 | 2952 | GSTT1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.09601507 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23000097 | 2944 | GSTM1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.101986792 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23039364 | 1312 | COMT | umls:C0006142 | BeFree | Association of COMT Val158Met polymorphism and breast cancer risk: an updated meta-analysis. | 0.101172466 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22199302 | 54658 | UGT1A1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.027741948 | 2011 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22297695 | 1312 | COMT | umls:C0006142 | BeFree | Association between the COMT Val158Met polymorphism and breast cancer risk: a meta-analysis of 30,199 cases and 38,922 controls. | 0.101172466 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 23000097 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. | 0.096829396 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 21898113 | 1312 | COMT | umls:C0006142 | BeFree | Catechol-O-methyltransferase genotype (Val158met) modulates cancer-related fatigue and pain sensitivity in breast cancer survivors. | 0.101172466 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 20130981 | 1312 | COMT | umls:C0006142 | BeFree | COMT Val158Met polymorphism and breast cancer risk: evidence from 26 case-control studies. | 0.101172466 | 2010 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 18820009 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype of CYP19A1 codon 39 (rs2236722), the methionine (Met) allele of COMT codon 158 (rs4680) or Pro allele of p53 codon 72 (rs1042522) were more frequent in ER-positive than ER-negative breast cancer, especially in patients less than 50-year old. | 0.113930234 | 2008 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22199302 | 1312 | COMT | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.101172466 | 2011 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 15386537 | 1545 | CYP1B1 | umls:C0006142 | BeFree | When MnSOD Ala was combined with either cytochrome P450 1B1 CYP1B1*1 and catechol O-methyltransferase COMT-L (V158M) genotypes, the risk for developing breast cancer was significantly increased in patients with a body mass index (BMI) greater than 24 kg m(-2) (OR: 1.42 (95%CI=1.04-1.93)). | 0.096829396 | 2005 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4684677 | 25376984 | 51738 | GHRL | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.00764398 | 2014 | GHRL;GHRLOS | 3 | 10286769 | T | A |
| rs4684677 | 25376984 | 2693 | GHSR | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.005819831 | 2014 | GHRL;GHRLOS | 3 | 10286769 | T | A |
| rs4687554 | 25390939 | 374659 | HDDC3 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | ITIH4;LOC105377646 | 3 | 52830119 | T | C |
| rs4687554 | 25390939 | 841 | CASP8 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.049197125 | 2014 | ITIH4;LOC105377646 | 3 | 52830119 | T | C |
| rs4687554 | 25390939 | 4610 | MYCL | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.005005506 | 2014 | ITIH4;LOC105377646 | 3 | 52830119 | T | C |
| rs4687554 | 25390939 | 389125 | MUSTN1 | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | ITIH4;LOC105377646 | 3 | 52830119 | T | C |
| rs4687554 | 25390939 | 29102 | DROSHA | umls:C0006142 | BeFree | Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. | 0.000271442 | 2014 | ITIH4;LOC105377646 | 3 | 52830119 | T | C |
| rs4726050 | 23034890 | 4193 | MDM2 | umls:C0006142 | BeFree | PRKAG2-rs4726050 showed a significant interaction with MDM2-SNP309, with PRKAG2-rs4726050 rare G-allele having a dose-dependent effect for better breast cancer survival confined only to MDM2 SNP309 rare G-allele carriers (HR 0.45, 95% CI 0.2-0.7; p = 0.001). | 0.05931642 | 2013 | PRKAG2 | 7 | 151559046 | C | T |
| rs4746 | 19452310 | 2739 | GLO1 | umls:C0006142 | BeFree | Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. | 0.009001189 | 2009 | GLO1 | 6 | 38682852 | T | G |
| rs4746 | 20712647 | 2739 | GLO1 | umls:C0006142 | BeFree | Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. | 0.009001189 | 2010 | GLO1 | 6 | 38682852 | T | G |
| rs4746 | 20712647 | 5241 | PGR | umls:C0006142 | BeFree | Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. | 0.132074704 | 2010 | GLO1 | 6 | 38682852 | T | G |
| rs4760658 | 21828234 | 36 | ACADSB | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | VDR | 12 | 47902703 | A | G |
| rs4760658 | 21828234 | 80007 | C10orf88 | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | VDR | 12 | 47902703 | A | G |
| rs4775936 | 23935996 | 54658 | UGT1A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.027741948 | 2013 | CYP19A1;PIRC66 | 15 | 51243825 | C | T |
| rs4775936 | 23935996 | 1588 | CYP19A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.113930234 | 2013 | CYP19A1;PIRC66 | 15 | 51243825 | C | T |
| rs4775936 | 23935996 | 5241 | PGR | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.132074704 | 2013 | CYP19A1;PIRC66 | 15 | 51243825 | C | T |
| rs4784223 | 24493630 | 27324 | TOX3 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.170011451 | 2015 | TOX3 | 16 | 52541995 | A | G |
| rs4784227 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | CASC16 | 16 | 52565276 | C | T |
| rs4784227 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | CASC16 | 16 | 52565276 | C | T |
| rs4784227 | 20585626 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium. | 0.127915422 | 2010 | CASC16 | 16 | 52565276 | C | T |
| rs4784227 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | CASC16 | 16 | 52565276 | C | T |
| rs4784227 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | CASC16 | 16 | 52565276 | C | T |
| rs4784227 | 25327703 | 643714 | CASC16 | umls:C0006142 | GWASCAT | Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. | 0.127915422 | 2014 | CASC16 | 16 | 52565276 | C | T |
| rs4803455 | 24036662 | 7040 | TGFB1 | umls:C0006142 | BeFree | After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98). | 0.09001189 | 2013 | TGFB1 | 19 | 41345604 | C | A |
| rs4803455 | 24036662 | 864 | RUNX3 | umls:C0006142 | BeFree | After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98). | 0.004614512 | 2013 | TGFB1 | 19 | 41345604 | C | A |
| rs4803455 | 24036662 | 8878 | SQSTM1 | umls:C0006142 | BeFree | After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98). | 0.001628651 | 2013 | TGFB1 | 19 | 41345604 | C | A |
| rs4807542 | 19124506 | 2879 | GPX4 | umls:C0006142 | GAD | [Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.] | 0.010553895 | 2009 | GPX4 | 19 | 1104079 | G | A |
| rs4808801 | 23535729 | 8178 | ELL | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | ELL | 19 | 18460331 | A | G |
| rs4821494 | 21792883 | 7295 | TXN | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.01062984 | 2011 | TXN2 | 22 | 36482113 | G | T |
| rs4821494 | 21792883 | 1535 | CYBA | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.000542884 | 2011 | TXN2 | 22 | 36482113 | G | T |
| rs4821494 | 21792883 | 25828 | TXN2 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.00764398 | 2011 | TXN2 | 22 | 36482113 | G | T |
| rs4821494 | 21792883 | 1666 | DECR1 | umls:C0006142 | BeFree | Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494). | 0.001357209 | 2011 | TXN2 | 22 | 36482113 | G | T |
| rs4849887 | 25007960 | 2099 | ESR1 | umls:C0006142 | BeFree | Statistically significant differences were detected with the association of rs6828523 (4q34.1/ADAM29) with ER-positive breast cancer (P = 1.27 × 10(-3)) and the association of rs4849887 (2q14.2) with PR-positive breast cancer (P = 1.29 × 10(-3)). | 0.24 | 2014 | NA | 2 | 120487546 | T | C |
| rs486907 | 15330212 | 6041 | RNASEL | umls:C0006142 | BeFree | Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. | 0.003181358 | 2004 | RNASEL | 1 | 182585422 | C | T |
| rs4880 | 20143154 | 6648 | SOD2 | umls:C0006142 | BeFree | Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: a meta-analysis involving 58,448 subjects. | 0.073953213 | 2010 | SOD2 | 6 | 159692840 | A | G |
| rs4880 | 20052533 | 6648 | SOD2 | umls:C0006142 | BeFree | No association between SOD2 Val16Ala polymorphism and breast cancer susceptibility: a meta-analysis based on 9,710 cases and 11,041 controls. | 0.073953213 | 2010 | SOD2 | 6 | 159692840 | A | G |
| rs4880 | 20309628 | 6648 | SOD2 | umls:C0006142 | GAD | [Our results are consistent with the hypothesis that women with higher SOD2 antioxidant activity may experience less treatment-related toxicity but shorter time to disease recurrence or death after breast cancer adjuvant chemotherapy, supporting the modifying effects of oxidative stress-related enzymes on cancer treatment toxicity and efficacy.] | 0.073953213 | 2010 | SOD2 | 6 | 159692840 | A | G |
| rs4880 | 21056286 | 6648 | SOD2 | umls:C0006142 | BeFree | Our findings suggest that the SOD2 Val16Ala variant is not related to the risk of breast cancer in Korean women; however, it may affect the association between plasma γ-tocopherol levels and the risk of breast cancer. | 0.073953213 | 2010 | SOD2 | 6 | 159692840 | A | G |
| rs4880 | 20082851 | 6648 | SOD2 | umls:C0006142 | BeFree | We studied the possible association between Ala16Val manganese-dependent superoxide dismutase (MnSOD) gene genotypes and breast cancer lymph node status because previous investigations suggested an association between the AA genotype and breast cancer. | 0.073953213 | 2010 | SOD2 | 6 | 159692840 | A | G |
| rs4919510 | 22586447 | 2064 | ERBB2 | umls:C0006142 | BeFree | Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HER2-positive breast cancer but not other subtypes. | 0.24 | 2012 | SEMA4G;MIR608 | 10 | 100975021 | C | G |
| rs4919510 | 22586447 | 693193 | MIR608 | umls:C0006142 | BeFree | Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HER2-positive breast cancer but not other subtypes. | 0.000271442 | 2012 | SEMA4G;MIR608 | 10 | 100975021 | C | G |
| rs4938723 | 23526039 | 406989 | MIR206 | umls:C0006142 | BeFree | Two SNPs, miR-34b/34c (rs4938723, HR = 0.57 (95 % CI = 0.37-0.89, p value = 0.01)) and miR-206 (rs6920648, HR = 0.77 (95 % CI = 0.61-0.97, p value = 0.02)), provided evidence of association with breast cancer survival. | 0.003528744 | 2013 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs4942440 | 22513257 | 675 | BRCA2 | umls:C0006142 | BeFree | Furthermore, there was suggestive evidence that the minor allele of SNP rs4942440, which is associated with higher BRCA2 expression, is also associated with a reduced risk of breast cancer (per-allele hazard ratio (HR) = 0.85, 95% confidence interval (CI) = 0.72 to 1.00, P-trend = 0.048). | 0.48 | 2012 | BRCA2 | 13 | 32344830 | G | A |
| rs4951011 | 25038754 | 9877 | ZC3H11A | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120271442 | 2014 | ZC3H11A;ZBED6 | 1 | 203797203 | A | G |
| rs4951011 | 25038754 | 9877 | ZC3H11A | umls:C0006142 | GWASCAT | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120271442 | 2014 | ZC3H11A;ZBED6 | 1 | 203797203 | A | G |
| rs4951011 | 25038754 | 100381270 | ZBED6 | umls:C0006142 | GWASCAT | Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. | 0.12 | 2014 | ZC3H11A;ZBED6 | 1 | 203797203 | A | G |
| rs4951011 | 25038754 | 9055 | PRC1 | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.120814326 | 2014 | ZC3H11A;ZBED6 | 1 | 203797203 | A | G |
| rs4951011 | 25038754 | 57561 | ARRDC3 | umls:C0006142 | BeFree | In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). | 0.000814326 | 2014 | ZC3H11A;ZBED6 | 1 | 203797203 | A | G |
| rs4973768 | 23117855 | 9497 | SLC4A7 | umls:C0006142 | BeFree | The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case-control study and a meta-analysis. | 0.131096779 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 21263130 | 9497 | SLC4A7 | umls:C0006142 | GWASCAT | Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. | 0.131096779 | 2011 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 20453838 | 9497 | SLC4A7 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.131096779 | 2010 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 23535729 | 9497 | SLC4A7 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.131096779 | 2013 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4973768 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | SLC4A7 | 3 | 27374522 | C | T |
| rs4986761 | 12473176 | 472 | ATM | umls:C0006142 | BeFree | No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. | 0.127502328 | 2002 | ATM | 11 | 108254034 | T | C |
| rs4986764 | 16430786 | 83990 | BRIP1 | umls:C0006142 | BeFree | BACH1 Ser919Pro variant and breast cancer risk. | 0.157785297 | 2006 | BRIP1 | 17 | 61685986 | A | G |
| rs4986764 | 17504528 | 83990 | BRIP1 | umls:C0006142 | BeFree | We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC. | 0.157785297 | 2007 | BRIP1 | 17 | 61685986 | A | G |
| rs4986771 | 16485136 | 7517 | XRCC3 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.084507108 | 2006 | ZNF350;ZNF350-AS1 | 19 | 51965039 | A | G |
| rs4986771 | 16485136 | 59348 | ZNF350 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.009272631 | 2006 | ZNF350;ZNF350-AS1 | 19 | 51965039 | A | G |
| rs4986771 | 16485136 | 675 | BRCA2 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.48 | 2006 | ZNF350;ZNF350-AS1 | 19 | 51965039 | A | G |
| rs4986790 | 22560646 | 7099 | TLR4 | umls:C0006142 | BeFree | The -174 to -196del of TLR2 gene and Asp299Gly of TLR4 gene polymorphisms may confer an increased susceptibility to breast cancer development. | 0.005624334 | 2012 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 22560646 | 7097 | TLR2 | umls:C0006142 | BeFree | The -174 to -196del of TLR2 gene and Asp299Gly of TLR4 gene polymorphisms may confer an increased susceptibility to breast cancer development. | 0.003452799 | 2012 | TLR4 | 9 | 117713024 | A | G |
| rs4986850 | 17764108 | 7486 | WRN | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.010553895 | 2008 | BRCA1 | 17 | 43093454 | C | T,A |
| rs4986850 | 17764108 | 5591 | PRKDC | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.011639663 | 2008 | BRCA1 | 17 | 43093454 | C | T,A |
| rs4986850 | 17764108 | 672 | BRCA1 | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.36 | 2008 | BRCA1 | 17 | 43093454 | C | T,A |
| rs4986854 | 15350310 | 672 | BRCA1 | umls:C0006142 | BeFree | We identified the variants V1804D and M1628T at the transcriptional activation domain of BRCA1 of two ovarian cancer patients without a family history of ovarian or breast cancer. | 0.36 | 2004 | BRCA1 | 17 | 43071031 | A | G |
| rs4986910 | 19214745 | 1576 | CYP3A4 | umls:C0006142 | BeFree | In multivariate analyses, we observed a significantly decreased risk of breast cancer associated with the CYP3A4 M445T minor allele (rs4986910, OR = 0.3; 95% CI 0.1-0.9). | 0.049588119 | 2009 | CYP3A4 | 7 | 99760901 | A | G |
| rs4986910 | 19214745 | 1576 | CYP3A4 | umls:C0006142 | GAD | [In multivariate analyses, we observed a significantly decreased risk of breast cancer associated with the CYP3A4 M445T minor allele (rs4986910, OR = 0.3; 95% CI 0.1-0.9).] | 0.049588119 | 2009 | CYP3A4 | 7 | 99760901 | A | G |
| rs4986938 | 25341980 | 2100 | ESR2 | umls:C0006142 | BeFree | The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated. | 0.068274001 | 2015 | ESR2 | 14 | 64233098 | C | T |
| rs4987188 | 19728162 | 4436 | MSH2 | umls:C0006142 | BeFree | MSH2-G322D likely does not cause a MMR defect, although this variant has also been associated with breast cancer as indeed seen in our patient. | 0.016254175 | 2009 | MSH2 | 2 | 47416318 | G | A,T |
| rs4989586 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | NA | NA | NA | NA | NA |
| rs4989587 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | NA | NA | NA | NA | NA |
| rs4989588 | 18669164 | 2237 | FEN1 | umls:C0006142 | BeFree | rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1), rs4989586/ G3259A (FEN1), rs4989587/C3315T (FEN1), and rs1050525/G6941T (PCNA) with breast cancer susceptibility. | 0.006905599 | 2008 | NA | NA | NA | NA | NA |
| rs4994 | 17264845 | 155 | ADRB3 | umls:C0006142 | BeFree | To determine if a missense change at codon 64 of ADRB3 (Trp64Arg), a candidate obesity gene, is associated with obesity and levels of subcutaneous or visceral fat in African-American breast cancer cases. | 0.005276948 | 2007 | ADRB3 | 8 | 37966280 | A | G |
| rs5030728 | 25332681 | 7132 | TNFRSF1A | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.003724241 | 2015 | TLR4 | 9 | 117712004 | G | A |
| rs5030728 | 25332681 | 7096 | TLR1 | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.003452799 | 2015 | TLR4 | 9 | 117712004 | G | A |
| rs5030728 | 25332681 | 7099 | TLR4 | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.005624334 | 2015 | TLR4 | 9 | 117712004 | G | A |
| rs505922 | 22642827 | 28 | ABO | umls:C0006142 | BeFree | Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study. | 0.004267125 | 2012 | NA | NA | NA | NA | NA |
| rs50872 | 21751184 | 7507 | XPA | umls:C0006142 | BeFree | Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively). | 0.00554839 | 2012 | ERCC2 | 19 | 45359191 | A | G |
| rs50872 | 21751184 | 2068 | ERCC2 | umls:C0006142 | BeFree | Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively). | 0.083616838 | 2012 | ERCC2 | 19 | 45359191 | A | G |
| rs5275 | 25214704 | 5743 | PTGS2 | umls:C0006142 | BeFree | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with the susceptibility of breast cancer: an updated meta-analysis involving 34,590 subjects. | 0.075287883 | 2014 | PTGS2 | 1 | 186673926 | A | G |
| rs537626 | 24493630 | 101928292 | LINC01488 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.12 | 2015 | LINC01488 | 11 | 69492927 | G | C |
| rs545500 | 19714462 | 80198 | MUS81 | umls:C0006142 | BeFree | MUS81 rs545500 and PBOV1 rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02-1.45; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07-2.18; P = 0.019, respectively). | 0.002638474 | 2010 | MUS81 | 11 | 65862463 | G | C |
| rs545500 | 19714462 | 59351 | PBOV1 | umls:C0006142 | BeFree | MUS81 rs545500 and PBOV1 rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02-1.45; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07-2.18; P = 0.019, respectively). | 0.003181358 | 2010 | MUS81 | 11 | 65862463 | G | C |
| rs5498 | 23079714 | 7087 | ICAM5 | umls:C0006142 | BeFree | Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphism may contribute to the susceptibility of breast cancer. | 0.000542884 | 2013 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 23079714 | 3383 | ICAM1 | umls:C0006142 | BeFree | Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphism may contribute to the susceptibility of breast cancer. | 0.005895776 | 2013 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs55633281 | 21108795 | 11073 | TOPBP1 | umls:C0006142 | BeFree | TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study. | 0.003181358 | 2010 | TOPBP1 | 3 | 133652627 | G | A |
| rs55770810 | 22889855 | 672 | BRCA1 | umls:C0006142 | BeFree | Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). | 0.36 | 2012 | BRCA1 | 17 | 43063931 | G | T,A |
| rs56046357 | 9609997 | 672 | BRCA1 | umls:C0006142 | UNIPROT | High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. | 0.36 | 1998 | BRCA1 | 17 | 43094148 | A | T |
| rs56160784 | 21329464 | 1728 | NQO1 | umls:C0006142 | BeFree | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenylalanine21leucine (C63G) polymorphisms do not play a significant role in breast cancer susceptibility in North Indian women. | 0.035733314 | 2011 | CYP1A2 | 15 | 74749801 | C | G |
| rs56160784 | 21329464 | 1544 | CYP1A2 | umls:C0006142 | BeFree | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenylalanine21leucine (C63G) polymorphisms do not play a significant role in breast cancer susceptibility in North Indian women. | 0.029913483 | 2011 | CYP1A2 | 15 | 74749801 | C | G |
| rs56214134 | 14722926 | 672 | BRCA1 | umls:C0006142 | UNIPROT | Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. | 0.36 | 2004 | BRCA1 | 17 | 43091931 | C | G,A |
| rs56391007 | 25605252 | 6654 | SOS1 | umls:C0006142 | BeFree | The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline single nucleotide polymorphism (SNP), MET-T1010I, in many cancer lineages including breast cancer where the MET-T1010I SNP is present in 2% of patients with metastatic breast cancer. | 0.00434307 | 2014 | MET | 7 | 116771936 | C | T |
| rs56391007 | 25605252 | 3569 | IL6 | umls:C0006142 | BeFree | The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline single nucleotide polymorphism (SNP), MET-T1010I, in many cancer lineages including breast cancer where the MET-T1010I SNP is present in 2% of patients with metastatic breast cancer. | 0.06649346 | 2014 | MET | 7 | 116771936 | C | T |
| rs56391007 | 25605252 | 3082 | HGF | umls:C0006142 | BeFree | The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline single nucleotide polymorphism (SNP), MET-T1010I, in many cancer lineages including breast cancer where the MET-T1010I SNP is present in 2% of patients with metastatic breast cancer. | 0.091053172 | 2014 | MET | 7 | 116771936 | C | T |
| rs56391007 | 25605252 | 4233 | MET | umls:C0006142 | BeFree | Functional consequence of the MET-T1010I polymorphism in breast cancer. | 0.089229024 | 2014 | MET | 7 | 116771936 | C | T |
| rs570613 | 19082709 | 2625 | GATA3 | umls:C0006142 | BeFree | No evidence that GATA3 rs570613 SNP modifies breast cancer risk. | 0.015320297 | 2009 | GATA3 | 10 | 8064539 | C | T |
| rs572169 | 25376984 | 2693 | GHSR | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.005819831 | 2014 | GHSR | 3 | 172447937 | C | T |
| rs572169 | 25376984 | 51738 | GHRL | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.00764398 | 2014 | GHSR | 3 | 172447937 | C | T |
| rs5745325 | 19781088 | 27030 | MLH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.002909916 | 2009 | MSH4 | 1 | 75803775 | G | A |
| rs5745325 | 19781088 | 2956 | MSH6 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.015363904 | 2009 | MSH4 | 1 | 75803775 | G | A |
| rs5745325 | 19781088 | 4437 | MSH3 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.012605878 | 2009 | MSH4 | 1 | 75803775 | G | A |
| rs5745325 | 19781088 | 4438 | MSH4 | umls:C0006142 | BeFree | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. | 0.000271442 | 2009 | MSH4 | 1 | 75803775 | G | A |
| rs5745752 | 25029565 | 56649 | TMPRSS4 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000814326 | 2014 | HGF | 7 | 81706144 | C | T |
| rs5745752 | 25029565 | 3082 | HGF | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.091053172 | 2014 | HGF | 7 | 81706144 | C | T |
| rs5745752 | 25029565 | 344805 | TMPRSS7 | umls:C0006142 | BeFree | SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042). | 0.000271442 | 2014 | HGF | 7 | 81706144 | C | T |
| rs5748469 | 16424062 | 10587 | TXNRD2 | umls:C0006142 | BeFree | For TXNRD2 A66S [AS versus AA: odds ratio (OR), 1.05; 95% confidence intervals (95% CI), 0.96-1.15; SS versus AA: OR, 1.12; 95% CI, 0.98-1.29], there are bioinformatics data to suggest that it is functional but confirmation in independent data sets is required before they can be regarded as definitive breast cancer susceptibility alleles. | 0.008729747 | 2006 | TXNRD2 | 22 | 19919576 | C | A |
| rs5751129 | 25569644 | 2547 | XRCC6 | umls:C0006142 | BeFree | Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in other cancers.Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms. | 0.014549579 | 2015 | XRCC6;DESI1 | 22 | 41619761 | C | T |
| rs5757037 | 23822714 | 4862 | NPAS2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.009001189 | 2013 | LOC400927-CSNK1E | 22 | 38323184 | A | G |
| rs5757037 | 23822714 | 56938 | ARNTL2 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.000542884 | 2013 | LOC400927-CSNK1E | 22 | 38323184 | A | G |
| rs5757037 | 23822714 | 8863 | PER3 | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001357209 | 2013 | LOC400927-CSNK1E | 22 | 38323184 | A | G |
| rs5757037 | 23822714 | 406 | ARNTL | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | LOC400927-CSNK1E | 22 | 38323184 | A | G |
| rs5757037 | 23822714 | 9575 | CLOCK | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.003257302 | 2013 | LOC400927-CSNK1E | 22 | 38323184 | A | G |
| rs5757037 | 23822714 | 4543 | MTNR1A | umls:C0006142 | BeFree | In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477). | 0.001628651 | 2013 | LOC400927-CSNK1E | 22 | 38323184 | A | G |
| rs5780218 | 25810563 | 3814 | KISS1 | umls:C0006142 | BeFree | Polymorphisms rs12998 and rs5780218 in KiSS1 suppressor metastasis gene in Mexican patients with breast cancer. | 0.00643866 | 2015 | KISS1 | 1 | 204196482 | A | - |
| rs595055 | 21766210 | 27161 | AGO2 | umls:C0006142 | BeFree | In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. | 0.001085767 | 2011 | AGO1 | 1 | 35914532 | T | C |
| rs595055 | 21766210 | 1655 | DDX5 | umls:C0006142 | BeFree | In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. | 0.001628651 | 2011 | AGO1 | 1 | 35914532 | T | C |
| rs598126 | 22199302 | 1312 | COMT | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.101172466 | 2011 | COASY | 17 | 42564502 | A | G |
| rs598126 | 22199302 | 54658 | UGT1A1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.027741948 | 2011 | COASY | 17 | 42564502 | A | G |
| rs598126 | 22199302 | 3292 | HSD17B1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.04194414 | 2011 | COASY | 17 | 42564502 | A | G |
| rs598126 | 22199302 | 2099 | ESR1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.24 | 2011 | COASY | 17 | 42564502 | A | G |
| rs6001930 | 23535729 | 57591 | MKL1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.121628651 | 2013 | MKL1 | 22 | 40480230 | T | C |
| rs6002421 | 23098447 | 2547 | XRCC6 | umls:C0006142 | BeFree | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A>G), rs132788 (G>T) and rs132793 (G>A) in XRCC6 gene might be risk factors for breast cancer, while the rs132788 (G>T) and rs6002421 (A>G) in XRCC6 gene might be protective. | 0.014549579 | 2012 | DESI1 | 22 | 41615960 | A | G |
| rs6013897 | 22649517 | 1591 | CYP24A1 | umls:C0006142 | BeFree | However, for rs6013897 genotypes (located at the 24-hydroxylase gene (CYP24A1)) there was a significant association with breast cancer (P<0.05). | 0.004071628 | 2012 | NA | 20 | 54125940 | T | A |
| rs605059 | 18483327 | 3292 | HSD17B1 | umls:C0006142 | BeFree | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAAAA)n] repeat (D15S520), CYP17A1 rs743572, and HSD17B1 rs605059 polymorphisms in relation to the risk of breast cancer and fibrocystic breast conditions, comparing 615 women with breast cancer and 467 women with fibrocystic breast conditions separately with 879 women without clinical breast disease. | 0.04194414 | 2008 | HSD17B1 | 17 | 42554888 | G | C,A |
| rs605059 | 20151320 | 3292 | HSD17B1 | umls:C0006142 | BeFree | The association between HSD17B1 Ser312Gly polymorphism and breast cancer risk: a meta-analysis including 31,053 subjects. | 0.04194414 | 2010 | HSD17B1 | 17 | 42554888 | G | C,A |
| rs6064389 | 21630024 | 7764 | ZNF217 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.00434307 | 2011 | CSTF1;AURKA | 20 | 56393679 | G | T |
| rs6064389 | 21630024 | 4605 | MYBL2 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.002171535 | 2011 | CSTF1;AURKA | 20 | 56393679 | G | T |
| rs6064389 | 21630024 | 6790 | AURKA | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.038252236 | 2011 | CSTF1;AURKA | 20 | 56393679 | G | T |
| rs6091822 | 21828234 | 80007 | C10orf88 | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | NA | 20 | 54145896 | G | T |
| rs6091822 | 21828234 | 36 | ACADSB | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | NA | 20 | 54145896 | G | T |
| rs6095541 | 19124506 | 5740 | PTGIS | umls:C0006142 | GAD | [Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.] | 0.00554839 | 2009 | NA | 20 | 49493651 | C | T |
| rs6097809 | 21828234 | 80007 | C10orf88 | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | CYP24A1 | 20 | 54156971 | T | C,G |
| rs6097809 | 21828234 | 36 | ACADSB | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | CYP24A1 | 20 | 54156971 | T | C,G |
| rs614367 | 22461340 | 5241 | PGR | umls:C0006142 | BeFree | The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype. | 0.132074704 | 2012 | NA | 11 | 69513996 | C | T |
| rs614367 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | NA | 11 | 69513996 | C | T |
| rs614367 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | NA | 11 | 69513996 | C | T |
| rs614367 | 22461340 | 2099 | ESR1 | umls:C0006142 | BeFree | The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype. | 0.24 | 2012 | NA | 11 | 69513996 | C | T |
| rs616488 | 23535733 | 5195 | PEX14 | umls:C0006142 | GWASCAT | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. | 0.120271442 | 2013 | PEX14 | 1 | 10506158 | A | G |
| rs616488 | 23535729 | 5195 | PEX14 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.120271442 | 2013 | PEX14 | 1 | 10506158 | A | G |
| rs61754966 | 17899368 | 4683 | NBN | umls:C0006142 | BeFree | I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. | 0.193953213 | 2008 | NBN | 8 | 89978293 | T | C |
| rs61754966 | 18280732 | 4683 | NBN | umls:C0006142 | BeFree | The aim of the study was to analyse the frequency of I171V mutation in NBS1 gene in 270 women with breast cancer, 176 patients with larynx cancer, 81 with second primary tumours of head and neck, 131 with colorectal carcinoma and 600 healthy individuals. | 0.193953213 | 2008 | NBN | 8 | 89978293 | T | C |
| rs61754966 | 18049891 | 4683 | NBN | umls:C0006142 | BeFree | NBS1 variant I171V and breast cancer risk. | 0.193953213 | 2008 | NBN | 8 | 89978293 | T | C |
| rs61764370 | 22436609 | 2064 | ERBB2 | umls:C0006142 | BeFree | KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hormone replacement therapy users: a case control study. | 0.24 | 2012 | KRAS | 12 | 25207290 | A | C |
| rs61764370 | 20676756 | 675 | BRCA2 | umls:C0006142 | BeFree | Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families. | 0.48 | 2011 | KRAS | 12 | 25207290 | A | C |
| rs61764370 | 22436609 | 3845 | KRAS | umls:C0006142 | BeFree | KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hormone replacement therapy users: a case control study. | 0.007795869 | 2012 | KRAS | 12 | 25207290 | A | C |
| rs619289 | 21630024 | 6790 | AURKA | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.038252236 | 2011 | MYBL2 | 20 | 43665973 | T | C |
| rs619289 | 21630024 | 4605 | MYBL2 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.002171535 | 2011 | MYBL2 | 20 | 43665973 | T | C |
| rs619289 | 21630024 | 7764 | ZNF217 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.00434307 | 2011 | MYBL2 | 20 | 43665973 | T | C |
| rs622082 | 16752224 | 5053 | PAH | umls:C0006142 | BeFree | IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk. | 0.001628651 | 2006 | IGHMBP2 | 11 | 68936491 | A | G |
| rs622082 | 16752224 | 3508 | IGHMBP2 | umls:C0006142 | BeFree | IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk. | 0.002638474 | 2006 | IGHMBP2 | 11 | 68936491 | A | G |
| rs623590 | 23481304 | 10194 | TSHZ1 | umls:C0006142 | BeFree | Further haplotype analysis showed that the CAA haplotype of rs623590-rs11662595-rs1421125 was more frequent among patients with breast cancer (adjusted OR, 1.856; 95% CI, 1.236-2.787; P=0.003). | 0.001085767 | 2013 | HRH4 | 18 | 24463389 | T | A,C |
| rs6259 | 23935996 | 1588 | CYP19A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.113930234 | 2013 | SHBG | 17 | 7633209 | G | A |
| rs6259 | 16982738 | 6462 | SHBG | umls:C0006142 | BeFree | Implications of gene-environment interaction in studies of gene variants in breast cancer: an example of dietary isoflavones and the D356N polymorphism in the sex hormone-binding globulin gene. | 0.022888332 | 2006 | SHBG | 17 | 7633209 | G | A |
| rs6259 | 21454829 | 6462 | SHBG | umls:C0006142 | BeFree | Further, the relation between breast cancer risk and SHBG rs6259 was found to vary by body mass index (weight (kg)/height (m)(2)) (P for interaction = 0.003). | 0.022888332 | 2011 | SHBG | 17 | 7633209 | G | A |
| rs6259 | 23935996 | 5241 | PGR | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.132074704 | 2013 | SHBG | 17 | 7633209 | G | A |
| rs6259 | 22711300 | 6462 | SHBG | umls:C0006142 | BeFree | Association between SHBG Asp327Asn (rs6259) polymorphism and breast cancer risk: a meta-analysis of 10,454 cases and 13,111 controls. | 0.022888332 | 2012 | SHBG | 17 | 7633209 | G | A |
| rs6259 | 23935996 | 54658 | UGT1A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.027741948 | 2013 | SHBG | 17 | 7633209 | G | A |
| rs6259 | 21454829 | 2950 | GSTP1 | umls:C0006142 | BeFree | Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. | 0.099000931 | 2011 | SHBG | 17 | 7633209 | G | A |
| rs63750447 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | MLH1 | 3 | 37025749 | T | A |
| rs63750895 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs63750895 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs63750895 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs63750895 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs63750895 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs63750895 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs63750895 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | MSH6 | 2 | 47800382 | T | C |
| rs6503691 | 17639043 | 6777 | STAT5B | umls:C0006142 | BeFree | According to Akaike's information criterion, the best model to describe the relationship between the haplotypes and BC was based on the SNPs rs6503691 (STAT5B) and rs7211777 (STAT3). | 0.01078173 | 2007 | STAT5B | 17 | 42242072 | C | T |
| rs6503691 | 17639043 | 6774 | STAT3 | umls:C0006142 | BeFree | According to Akaike's information criterion, the best model to describe the relationship between the haplotypes and BC was based on the SNPs rs6503691 (STAT5B) and rs7211777 (STAT3). | 0.029511219 | 2007 | STAT5B | 17 | 42242072 | C | T |
| rs6504950 | 23893088 | 4046 | LSP1 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.161672698 | 2013 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 23893088 | 2263 | FGFR2 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.229599312 | 2013 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 23893088 | 252983 | STXBP4 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.12764398 | 2013 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 23535729 | 252983 | STXBP4 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12764398 | 2013 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22863968 | 140468 | COX11P1 | umls:C0006142 | BeFree | Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls. | 0.001085767 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 23893088 | 9497 | SLC4A7 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.131096779 | 2013 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 22863968 | 252983 | STXBP4 | umls:C0006142 | BeFree | Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls. | 0.12764398 | 2012 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 23893088 | 27324 | TOX3 | umls:C0006142 | BeFree | We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. | 0.170011451 | 2013 | STXBP4 | 17 | 54979110 | G | A |
| rs6504950 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | STXBP4 | 17 | 54979110 | G | A |
| rs6505162 | 23982873 | 406938 | MIR146A | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.008262808 | 2013 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs6505162 | 23982873 | 442918 | MIR373 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001900093 | 2013 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs6505162 | 25663458 | 7157 | TP53 | umls:C0006142 | BeFree | Our data showed that two out of five breast cancer cell lines and 8.77 % (10/114) of tumors underwent somatic mutations of the rs6505162 SNP, and somatic mutation state was significantly correlated with the expression of clinicopathologic variables, proliferating cell nuclear antigen (PCNA) and mutant p53. | 0.24 | 2015 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs6505162 | 23982873 | 406941 | MIR149 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.001357209 | 2013 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs6505162 | 25663458 | 5111 | PCNA | umls:C0006142 | BeFree | Our data showed that two out of five breast cancer cell lines and 8.77 % (10/114) of tumors underwent somatic mutations of the rs6505162 SNP, and somatic mutation state was significantly correlated with the expression of clinicopathologic variables, proliferating cell nuclear antigen (PCNA) and mutant p53. | 0.036416818 | 2015 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs6505162 | 23982873 | 494335 | MIR423 | umls:C0006142 | BeFree | However, for the miR-146a rs2910164 (G>C), miR-149 rs2292832 (G>T), miR-373 rs12983273 (C>T), and miR-423 rs6505162 (C>A) polymorphisms, we failed to find any significant association with the risk of breast cancer in any genetic model. | 0.000814326 | 2013 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs653465 | 24493630 | 152110 | NEK10 | umls:C0006142 | GWASCAT | A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | 0.127101096 | 2015 | NEK10 | 3 | 27302153 | C | T |
| rs6556756 | 17903305 | 101927835 | LOC101927835 | umls:C0006142 | GWASCAT | A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. | 0.12 | 2007 | LOC101927835 | 5 | 164462274 | G | T |
| rs6569479 | 19856316 | 2099 | ESR1 | umls:C0006142 | BeFree | Finally, we provide evidence for the first time that a low-risk variant located at 6q22.33 (rs6569479) is associated with estrogen receptor negative BC in familial cases (OR = 1.33, 95% CI 1.06-1.66; p-value = 0.012). | 0.24 | 2010 | RNF146 | 6 | 127285443 | T | C |
| rs660118 | 19377877 | 6241 | RRM2 | umls:C0006142 | BeFree | Two variants in EIF3A (rs10787899 and rs3824830; P < 0.01) and four variants in SART1 (rs660118, rs679581, rs754532, and rs735942; P(trend) < or = 0.02) were significantly associated with an altered risk of breast cancer along with single variants in RRM2, PSCD3, C11orf51, CDC16, SNW1, MFAP1, and CDC2 (P < 0.05). | 0.001628651 | 2010 | SART1 | 11 | 65967703 | G | C |
| rs660118 | 21695249 | 9092 | SART1 | umls:C0006142 | BeFree | Particularly, the breast cancer associated allele of rs660118 SNP in the gene SART1 showed a near doubled frequency in glioblastoma patients, as verified in an independent control cohort by Sanger sequencing. | 0.000814326 | 2011 | SART1 | 11 | 65967703 | G | C |
| rs662 | 21229382 | 5444 | PON1 | umls:C0006142 | BeFree | Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with breast cancer risk and their clinical significance. | 0.010358398 | 2011 | PON1 | 7 | 95308134 | T | C |
| rs664677 | 22203481 | 472 | ATM | umls:C0006142 | BeFree | ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast cancer risk. | 0.127502328 | 2012 | ATM | 11 | 108272455 | C | T |
| rs6678914 | 23535733 | 59352 | LGR6 | umls:C0006142 | GWASCAT | SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). | 0.120542884 | 2013 | LGR6 | 1 | 202218048 | G | A |
| rs670 | 23829168 | 335 | APOA1 | umls:C0006142 | BeFree | Furthermore, control of lipid homeostasis might protect APOA1 rs670 minor allele carriers from breast cancer occurrence and progression. | 0.001357209 | 2013 | APOA1;APOA1-AS | 11 | 116837697 | C | T |
| rs6762644 | 23535729 | 3708 | ITPR1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | ITPR1 | 3 | 4700592 | A | G |
| rs676387 | 22199302 | 2099 | ESR1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.24 | 2011 | HSD17B1 | 17 | 42554255 | C | A |
| rs676387 | 22199302 | 3292 | HSD17B1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.04194414 | 2011 | HSD17B1 | 17 | 42554255 | C | A |
| rs676387 | 22199302 | 1312 | COMT | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.101172466 | 2011 | HSD17B1 | 17 | 42554255 | C | A |
| rs676387 | 22199302 | 54658 | UGT1A1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.027741948 | 2011 | HSD17B1 | 17 | 42554255 | C | A |
| rs6788895 | 22951594 | 6478 | SIAH2 | umls:C0006142 | GWASCAT | A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese. | 0.121085767 | 2012 | SIAH2 | 3 | 150750021 | G | T |
| rs679581 | 19377877 | 6241 | RRM2 | umls:C0006142 | BeFree | Two variants in EIF3A (rs10787899 and rs3824830; P < 0.01) and four variants in SART1 (rs660118, rs679581, rs754532, and rs735942; P(trend) < or = 0.02) were significantly associated with an altered risk of breast cancer along with single variants in RRM2, PSCD3, C11orf51, CDC16, SNW1, MFAP1, and CDC2 (P < 0.05). | 0.001628651 | 2010 | SART1 | 11 | 65979182 | A | G |
| rs6828523 | 25007960 | 2099 | ESR1 | umls:C0006142 | BeFree | Statistically significant differences were detected with the association of rs6828523 (4q34.1/ADAM29) with ER-positive breast cancer (P = 1.27 × 10(-3)) and the association of rs4849887 (2q14.2) with PR-positive breast cancer (P = 1.29 × 10(-3)). | 0.24 | 2014 | ADAM29 | 4 | 174925275 | C | A |
| rs6828523 | 25227710 | 2099 | ESR1 | umls:C0006142 | BeFree | SNP rs6828523 was associated with increased ER-negative BC risk in women ≥170 cm (OR = 1.22, p = 0.017), but inversely associated with ER-negative BC risk in women <160 cm (OR = 0.83, p = 0.039, pint = 1.9 × 10(-4) ). | 0.24 | 2014 | ADAM29 | 4 | 174925275 | C | A |
| rs6828523 | 23535729 | 11086 | ADAM29 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.120271442 | 2013 | ADAM29 | 4 | 174925275 | C | A |
| rs689466 | 25214704 | 5743 | PTGS2 | umls:C0006142 | BeFree | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with the susceptibility of breast cancer: an updated meta-analysis involving 34,590 subjects. | 0.075287883 | 2014 | PTGS2;PACERR | 1 | 186681619 | T | C |
| rs6914091 | 19404734 | 2534 | FYN | umls:C0006142 | BeFree | A total of 22 SNPs from 13 kinase genes displayed significant associations with breast cancer risk (P(trend) < or = 0.05), including two SNPs from FYN (rs6914091 and rs1465061) that remained of interest after accounting for multiple testing (q = 0.06). | 0.000814326 | 2010 | FYN | 6 | 111760532 | C | T |
| rs6920648 | 23526039 | 406989 | MIR206 | umls:C0006142 | BeFree | Two SNPs, miR-34b/34c (rs4938723, HR = 0.57 (95 % CI = 0.37-0.89, p value = 0.01)) and miR-206 (rs6920648, HR = 0.77 (95 % CI = 0.61-0.97, p value = 0.02)), provided evidence of association with breast cancer survival. | 0.003528744 | 2013 | MIR206 | 6 | 52143818 | A | G |
| rs6927706 | 19714462 | 59351 | PBOV1 | umls:C0006142 | BeFree | MUS81 rs545500 and PBOV1 rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02-1.45; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07-2.18; P = 0.019, respectively). | 0.003181358 | 2010 | ARFGEF3;PBOV1 | 6 | 138218178 | A | G |
| rs6927706 | 19714462 | 80198 | MUS81 | umls:C0006142 | BeFree | MUS81 rs545500 and PBOV1 rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02-1.45; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07-2.18; P = 0.019, respectively). | 0.002638474 | 2010 | ARFGEF3;PBOV1 | 6 | 138218178 | A | G |
| rs693 | 23444115 | 338 | APOB | umls:C0006142 | BeFree | Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast cancer in Chinese. | 0.000542884 | 2013 | APOB | 2 | 21009323 | G | A |
| rs6949149 | 19965896 | 3569 | IL6 | umls:C0006142 | BeFree | In analyses not adjusted for multiple testing, one IL6 polymorphism (rs6949149) was marginally associated with breast cancer risk (TT versus GG, odds ratios (OR): 1.32; 99% confidence intervals (CI): 1.00-1.74, P(trend) = 0.003) and two were marginally associated with prostate cancer risk (rs6969502-AA versus rs6969502-GG, OR: 0.87, 99% CI: 0.75-1.02; P(trend) = 0.002 and rs7805828-AA versus rs7805828-GG, OR: 1.11, 99% CI: 0.99-1.26; P(trend) = 0.007). | 0.06649346 | 2010 | NA | 7 | 22709538 | G | T |
| rs696217 | 25376984 | 2693 | GHSR | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.005819831 | 2014 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 25376984 | 51738 | GHRL | umls:C0006142 | BeFree | This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers. | 0.00764398 | 2014 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs6964587 | 21931171 | 10142 | AKAP9 | umls:C0006142 | BeFree | Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. | 0.002909916 | 2011 | AKAP9 | 7 | 92001306 | G | T |
| rs6969502 | 19965896 | 3569 | IL6 | umls:C0006142 | BeFree | In analyses not adjusted for multiple testing, one IL6 polymorphism (rs6949149) was marginally associated with breast cancer risk (TT versus GG, odds ratios (OR): 1.32; 99% confidence intervals (CI): 1.00-1.74, P(trend) = 0.003) and two were marginally associated with prostate cancer risk (rs6969502-AA versus rs6969502-GG, OR: 0.87, 99% CI: 0.75-1.02; P(trend) = 0.002 and rs7805828-AA versus rs7805828-GG, OR: 1.11, 99% CI: 0.99-1.26; P(trend) = 0.007). | 0.06649346 | 2010 | NA | 7 | 22712807 | G | A |
| rs6983267 | 24414391 | 2099 | ESR1 | umls:C0006142 | BeFree | In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgroup. | 0.24 | 2013 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24414391 | 5241 | PGR | umls:C0006142 | BeFree | In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgroup. | 0.132074704 | 2013 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6990097 | 19766477 | 343169 | OR6F1 | umls:C0006142 | BeFree | However, none of them was associated with BC susceptibility and only rs6990097 correlated with regional lymph node metastasis (odds ratio (OR) 1.38, 95% confidence interval (CI) 1.08-1.77). | 0.000271442 | 2009 | TNKS | 8 | 9555347 | T | C |
| rs6990300 | 23629941 | 7014 | TERF2 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007915422 | 2013 | TNKS | 8 | 9690351 | G | A |
| rs6990300 | 23629941 | 8658 | TNKS | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007372538 | 2013 | TNKS | 8 | 9690351 | G | A |
| rs6990300 | 23629941 | 7011 | TEP1 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.005005506 | 2013 | TNKS | 8 | 9690351 | G | A |
| rs6990300 | 23629941 | 7015 | TERT | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.13842571 | 2013 | TNKS | 8 | 9690351 | G | A |
| rs7003146 | 24338422 | 6934 | TCF7L2 | umls:C0006142 | BeFree | Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in TCF7L2 with variations in the risk of breast cancer in a Chinese Han population. | 0.126710102 | 2014 | NA | 8 | 35884126 | A | G |
| rs7003146 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | NA | 8 | 35884126 | A | G |
| rs7003146 | 24338422 | 5783 | PTPN13 | umls:C0006142 | BeFree | Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in TCF7L2 with variations in the risk of breast cancer in a Chinese Han population. | 0.001357209 | 2014 | NA | 8 | 35884126 | A | G |
| rs700518 | 23643682 | 1588 | CYP19A1 | umls:C0006142 | BeFree | Genetic polymorphism at Val80 (rs700518) of the CYP19A1 gene is associated with aromatase inhibitor associated bone loss in women with ER + breast cancer. | 0.113930234 | 2013 | CYP19A1;PIRC66 | 15 | 51236915 | T | C |
| rs700519 | 12618873 | 1588 | CYP19A1 | umls:C0006142 | BeFree | The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here. | 0.113930234 | 2003 | CYP19A1;PIRC66 | 15 | 51215771 | G | A |
| rs700519 | 24430361 | 2100 | ESR2 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.068274001 | 2013 | CYP19A1;PIRC66 | 15 | 51215771 | G | A |
| rs700519 | 12618873 | 1545 | CYP1B1 | umls:C0006142 | BeFree | The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here. | 0.096829396 | 2003 | CYP19A1;PIRC66 | 15 | 51215771 | G | A |
| rs700519 | 24430361 | 1586 | CYP17A1 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.096829396 | 2013 | CYP19A1;PIRC66 | 15 | 51215771 | G | A |
| rs7014346 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | CASC8 | 8 | 127412547 | A | G |
| rs7014346 | 24338422 | 5783 | PTPN13 | umls:C0006142 | BeFree | Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in TCF7L2 with variations in the risk of breast cancer in a Chinese Han population. | 0.001357209 | 2014 | CASC8 | 8 | 127412547 | A | G |
| rs7014346 | 24338422 | 6934 | TCF7L2 | umls:C0006142 | BeFree | Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in TCF7L2 with variations in the risk of breast cancer in a Chinese Han population. | 0.126710102 | 2014 | CASC8 | 8 | 127412547 | A | G |
| rs704010 | 23136140 | 5241 | PGR | umls:C0006142 | BeFree | Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. | 0.132074704 | 2013 | ZMIZ1 | 10 | 79081391 | T | C |
| rs704010 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | ZMIZ1 | 10 | 79081391 | T | C |
| rs704010 | 23136140 | 7015 | TERT | umls:C0006142 | BeFree | Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. | 0.13842571 | 2013 | ZMIZ1 | 10 | 79081391 | T | C |
| rs704010 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | ZMIZ1 | 10 | 79081391 | T | C |
| rs704010 | 20453838 | 57178 | ZMIZ1 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.120542884 | 2010 | ZMIZ1 | 10 | 79081391 | T | C |
| rs704010 | 23535729 | 57178 | ZMIZ1 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.120542884 | 2013 | ZMIZ1 | 10 | 79081391 | T | C |
| rs7041 | 21693626 | 2638 | GC | umls:C0006142 | BeFree | For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds ratio (OR) = 1.23; 95% CI: 1.01, 1.51) and inversely with the VDR Fok1 (rs2228570) ff genotype (OR = 0.71; 95% CI: 0.57, 0.88). | 0.003181358 | 2011 | GC | 4 | 71752617 | A | C |
| rs7072776 | 23535729 | 8028 | MLLT10 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | MLLT10 | 10 | 21744013 | A | G |
| rs7072793 | 22213266 | 3559 | IL2RA | umls:C0006142 | BeFree | Functional polymorphism rs7072793 C > T affect individual susceptibility to breast cancer by modulating CD25 transcription activity. | 0.001628651 | 2013 | IL2RA | 10 | 6064303 | T | C |
| rs7149859 | 25890600 | 5283 | PIGH | umls:C0006142 | GWASCAT | Identification of novel genetic markers of breast cancer survival. | 0.12 | 2015 | PIGH;LOC105370543 | 14 | 67599772 | G | A,T |
| rs7166081 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | NA | 15 | 67199963 | G | A |
| rs720475 | 23535729 | 7984 | ARHGEF5 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.12 | 2013 | ARHGEF5 | 7 | 144377836 | G | A |
| rs7211777 | 17639043 | 6777 | STAT5B | umls:C0006142 | BeFree | According to Akaike's information criterion, the best model to describe the relationship between the haplotypes and BC was based on the SNPs rs6503691 (STAT5B) and rs7211777 (STAT3). | 0.01078173 | 2007 | STAT3 | 17 | 42382057 | G | A |
| rs7211777 | 17639043 | 6774 | STAT3 | umls:C0006142 | BeFree | According to Akaike's information criterion, the best model to describe the relationship between the haplotypes and BC was based on the SNPs rs6503691 (STAT5B) and rs7211777 (STAT3). | 0.029511219 | 2007 | STAT3 | 17 | 42382057 | G | A |
| rs7226991 | 21541702 | 675 | BRCA2 | umls:C0006142 | BeFree | Here, we show that a common genetic variant near the 5'-end of TNFRSF11A, rs7226991, is associated with breast cancer risk in the general population and among carriers of mutations in the breast cancer 2, early onset (BRCA2) gene. | 0.48 | 2011 | NA | 18 | 62321458 | G | A |
| rs733025 | 19454617 | 56155 | TEX14 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | NA | 17 | 62458475 | G | A |
| rs733025 | 19454617 | 5578 | PRKCA | umls:C0006142 | BeFree | Of these, PRKCA rs7342847 and TLK2 rs2245092 and rs733025 were also associated with hormone receptor-positive breast cancer: PRKCA rs7342847 (odds ratio, 0.7; 95% confidence interval, 0.6-0.9; P(trend) = 0.002) and TLK2 rs733025 and rs2245092 (both: odds ratio, 0.8; 95% confidence interval, 0.7-1.0; P(trend) = 0.03). | 0.00643866 | 2009 | NA | 17 | 62458475 | G | A |
| rs733025 | 19454617 | 388403 | YPEL2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.005005506 | 2009 | NA | 17 | 62458475 | G | A |
| rs733025 | 19454617 | 5414 | 4-Sep | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | NA | 17 | 62458475 | G | A |
| rs733025 | 19454617 | 11011 | TLK2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002909916 | 2009 | NA | 17 | 62458475 | G | A |
| rs7342847 | 19454617 | 5578 | PRKCA | umls:C0006142 | BeFree | Of these, PRKCA rs7342847 and TLK2 rs2245092 and rs733025 were also associated with hormone receptor-positive breast cancer: PRKCA rs7342847 (odds ratio, 0.7; 95% confidence interval, 0.6-0.9; P(trend) = 0.002) and TLK2 rs733025 and rs2245092 (both: odds ratio, 0.8; 95% confidence interval, 0.7-1.0; P(trend) = 0.03). | 0.00643866 | 2009 | PRKCA | 17 | 66806426 | C | T |
| rs735942 | 19377877 | 6241 | RRM2 | umls:C0006142 | BeFree | Two variants in EIF3A (rs10787899 and rs3824830; P < 0.01) and four variants in SART1 (rs660118, rs679581, rs754532, and rs735942; P(trend) < or = 0.02) were significantly associated with an altered risk of breast cancer along with single variants in RRM2, PSCD3, C11orf51, CDC16, SNW1, MFAP1, and CDC2 (P < 0.05). | 0.001628651 | 2010 | NA | 11 | 65981866 | A | G |
| rs743572 | 24430361 | 1586 | CYP17A1 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.096829396 | 2013 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 18483327 | 3292 | HSD17B1 | umls:C0006142 | BeFree | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAAAA)n] repeat (D15S520), CYP17A1 rs743572, and HSD17B1 rs605059 polymorphisms in relation to the risk of breast cancer and fibrocystic breast conditions, comparing 615 women with breast cancer and 467 women with fibrocystic breast conditions separately with 879 women without clinical breast disease. | 0.04194414 | 2008 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 20133979 | 1586 | CYP17A1 | umls:C0006142 | BeFree | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susceptibility. | 0.096829396 | 2010 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 20133979 | 1588 | CYP19A1 | umls:C0006142 | BeFree | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susceptibility. | 0.113930234 | 2010 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 24430361 | 2100 | ESR2 | umls:C0006142 | BeFree | We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. | 0.068274001 | 2013 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 22418777 | 1545 | CYP1B1 | umls:C0006142 | BeFree | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and within CYP17A1 (rs743572; p (het) = 0.009) in which never users of HT were at a decreased risk of breast cancer, while ever users were at a non-significant increased risk. | 0.096829396 | 2012 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 22418777 | 1586 | CYP17A1 | umls:C0006142 | BeFree | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and within CYP17A1 (rs743572; p (het) = 0.009) in which never users of HT were at a decreased risk of breast cancer, while ever users were at a non-significant increased risk. | 0.096829396 | 2012 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs743572 | 20013047 | 1586 | CYP17A1 | umls:C0006142 | BeFree | No association between CYP17 T-34C polymorphism and breast cancer risk: a meta-analysis involving 58,814 subjects. | 0.096829396 | 2010 | CYP17A1 | 10 | 102837395 | A | G,T |
| rs7439366 | 21658222 | 7364 | UGT2B7 | umls:C0006142 | BeFree | Impact of UGT2B7 His268Tyr polymorphism on the outcome of adjuvant epirubicin treatment in breast cancer. | 0.010553895 | 2011 | UGT2B7 | 4 | 69098620 | T | C |
| rs744154 | 19423537 | 637 | BID | umls:C0006142 | BeFree | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. | 0.005819831 | 2009 | ERCC4;LOC105371093 | 16 | 13921224 | G | C |
| rs754532 | 19377877 | 6241 | RRM2 | umls:C0006142 | BeFree | Two variants in EIF3A (rs10787899 and rs3824830; P < 0.01) and four variants in SART1 (rs660118, rs679581, rs754532, and rs735942; P(trend) < or = 0.02) were significantly associated with an altered risk of breast cancer along with single variants in RRM2, PSCD3, C11orf51, CDC16, SNW1, MFAP1, and CDC2 (P < 0.05). | 0.001628651 | 2010 | SART1 | 11 | 65979586 | G | A |
| rs7550380 | 19965896 | 5743 | PTGS2 | umls:C0006142 | BeFree | An increase in breast cancer risk was observed for the PTGS2 polymorphism rs7550380 (TT versus GG, OR: 1.38, 99% CI: 1.04-1.83). | 0.075287883 | 2010 | NA | 1 | 186695373 | G | T |
| rs7558615 | 17903305 | 4481 | MSR1 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.000814326 | 2007 | ERBB4 | 2 | 212081424 | T | C |
| rs7558615 | 17903305 | 2066 | ERBB4 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.132214884 | 2007 | ERBB4 | 2 | 212081424 | T | C |
| rs7564590 | 17903305 | 2066 | ERBB4 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.132214884 | 2007 | ERBB4 | 2 | 212523176 | C | T |
| rs7564590 | 17903305 | 4481 | MSR1 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.000814326 | 2007 | ERBB4 | 2 | 212523176 | C | T |
| rs757158 | 24130171 | 5444 | PON1 | umls:C0006142 | BeFree | PON1 (rs757158) was associated with breast cancer but not methylation. | 0.010358398 | 2014 | PON1 | 7 | 95326216 | C | T |
| rs758377 | 19454617 | 5414 | 4-Sep | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | SEPT4;SEPT4-AS1 | 17 | 58529763 | T | C |
| rs758377 | 19454617 | 388403 | YPEL2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.005005506 | 2009 | SEPT4;SEPT4-AS1 | 17 | 58529763 | T | C |
| rs758377 | 19454617 | 11011 | TLK2 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002909916 | 2009 | SEPT4;SEPT4-AS1 | 17 | 58529763 | T | C |
| rs758377 | 19454617 | 56155 | TEX14 | umls:C0006142 | BeFree | Interactions between SEPT4 rs758377 and TEX14 rs302864 (P(interaction) = 0.0003) and between TLK2 rs733025 and YPEL2 rs16943468 (P(interaction) = 0.05) for risk of breast cancer were also observed. | 0.002638474 | 2009 | SEPT4;SEPT4-AS1 | 17 | 58529763 | T | C |
| rs769412 | 23755158 | 26015 | RPAP1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.000271442 | 2013 | MDM2 | 12 | 68839435 | A | G |
| rs769412 | 23755158 | 328 | APEX1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.018816704 | 2013 | MDM2 | 12 | 68839435 | A | G |
| rs769412 | 23755158 | 4193 | MDM2 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.05931642 | 2013 | MDM2 | 12 | 68839435 | A | G |
| rs769412 | 23755158 | 4292 | MLH1 | umls:C0006142 | BeFree | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). | 0.022345448 | 2013 | MDM2 | 12 | 68839435 | A | G |
| rs7696175 | 25332681 | 7096 | TLR1 | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.003452799 | 2015 | NA | 4 | 38819365 | T | C |
| rs7696175 | 22965832 | 7096 | TLR1 | umls:C0006142 | BeFree | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with increased breast cancer risk, with per-allele ORs (95 % CI) of 1.16 (1.00-1.34), 1.15 (1.02-1.29), and 1.15 (1.01-1.29), respectively. | 0.003452799 | 2012 | NA | 4 | 38819365 | T | C |
| rs7696175 | 22965832 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Variants of rs7696175/TLR1, TLR6, rs13281615/8q24, and rs16886165/MAP3K1 were also associated with increased breast cancer risk, with per-allele ORs (95 % CI) of 1.16 (1.00-1.34), 1.15 (1.02-1.29), and 1.15 (1.01-1.29), respectively. | 0.166482707 | 2012 | NA | 4 | 38819365 | T | C |
| rs7696175 | 25332681 | 7132 | TNFRSF1A | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.003724241 | 2015 | NA | 4 | 38819365 | T | C |
| rs7696175 | 25332681 | 7099 | TLR4 | umls:C0006142 | BeFree | Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% CI 1.30, 2.95; P(adj) = 0.014), and TNFRSF1A rs4149578 (HR 2.71, 95% CI 1.28, 5.76; P(adj) = 0.029) were associated with increased breast cancer mortality. | 0.005624334 | 2015 | NA | 4 | 38819365 | T | C |
| rs7716600 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | NA | 5 | 44874903 | A | C |
| rs7716600 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | NA | 5 | 44874903 | A | C |
| rs7716600 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | NA | 5 | 44874903 | A | C |
| rs7716600 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | NA | 5 | 44874903 | A | C |
| rs7726159 | 25296732 | 7015 | TERT | umls:C0006142 | BeFree | The aim of our study was to investigate the association of allelic variants of three functional polymorphisms rs2853669, rs2736100, and rs7726159 in the telomerase reverse transcriptase (TERT) gene with the risk of the breast cancer and prostate cancer in Russian population. | 0.13842571 | 2014 | TERT | 5 | 1282204 | C | A |
| rs7732671 | 16704985 | 133522 | PPARGC1B | umls:C0006142 | BeFree | The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P(trend) = 0.0004). | 0.004267125 | 2006 | PPARGC1B | 5 | 149832680 | G | C |
| rs7732671 | 16704985 | 10891 | PPARGC1A | umls:C0006142 | BeFree | The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P(trend) = 0.0004). | 0.006091273 | 2006 | PPARGC1B | 5 | 149832680 | G | C |
| rs7775 | 23516639 | 2487 | FRZB | umls:C0006142 | BeFree | The rs7775 SNP in exon 6 of SFRP3 gene that codes for either arginine or glycine exhibited very strong association with breast cancer, even after Bonferroni's correction. | 0.000814326 | 2013 | FRZB | 2 | 182834857 | G | T,C,A |
| rs7805828 | 19965896 | 3569 | IL6 | umls:C0006142 | BeFree | In analyses not adjusted for multiple testing, one IL6 polymorphism (rs6949149) was marginally associated with breast cancer risk (TT versus GG, odds ratios (OR): 1.32; 99% confidence intervals (CI): 1.00-1.74, P(trend) = 0.003) and two were marginally associated with prostate cancer risk (rs6969502-AA versus rs6969502-GG, OR: 0.87, 99% CI: 0.75-1.02; P(trend) = 0.002 and rs7805828-AA versus rs7805828-GG, OR: 1.11, 99% CI: 0.99-1.26; P(trend) = 0.007). | 0.06649346 | 2010 | NA | 7 | 22718943 | G | A |
| rs7903146 | 21301999 | 6934 | TCF7L2 | umls:C0006142 | BeFree | Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association of TCF7L2 rs12255372(G/T) or rs7903146(C/T) with breast cancer risk and clinico-pathological parameters. | 0.126710102 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7904519 | 23535729 | 6934 | TCF7L2 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.126710102 | 2013 | TCF7L2 | 10 | 113014168 | A | G |
| rs7963551 | 25566853 | 4361 | MRE11A | umls:C0006142 | BeFree | MRE11A rs2155209 and RAD52 rs7963551 were found to be associated with BC risk (ORadjusted: 1.87; 95 % CI: 1.23-2.86 and ORadjusted: 0.36; 95 % CI: 0.24-0.58). | 0.016645169 | 2014 | RAD52 | 12 | 912349 | T | G |
| rs799890 | 24927736 | 8667 | EIF3H | umls:C0006142 | BeFree | SNPs in TACC2 [rs17550038: odds ratio (OR) = 1.24, 95% confidence interval (CI) 1.16-1.33, P = 4.2 × 10(-10)) and EIF3H (rs799890: OR = 1.07, 95% CI 1.04-1.11, P = 8.7 × 10(-6)) were significantly associated with risk of low-grade breast cancer. | 0.000814326 | 2015 | LINC00536 | 8 | 116237363 | G | C |
| rs799917 | 25194442 | 672 | BRCA1 | umls:C0006142 | BeFree | Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 subjects. | 0.36 | 2014 | BRCA1 | 17 | 43092919 | G | T,C,A |
| rs799917 | 19205873 | 672 | BRCA1 | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.36 | 2009 | BRCA1 | 17 | 43092919 | G | T,C,A |
| rs799917 | 19205873 | 641 | BLM | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.010086957 | 2009 | BRCA1 | 17 | 43092919 | G | T,C,A |
| rs799917 | 20332227 | 672 | BRCA1 | umls:C0006142 | BeFree | To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control population study and observed that germline occurrence of rs799917-BRCA1 and rs334348-TGFR1 significantly varies among populations with different risks of developing BC. | 0.36 | 2010 | BRCA1 | 17 | 43092919 | G | T,C,A |
| rs801186 | 24510587 | 7453 | WARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | HARS | 5 | 140688193 | T | C |
| rs801186 | 24510587 | 3035 | HARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | HARS | 5 | 140688193 | T | C |
| rs801186 | 24510587 | 5917 | RARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | HARS | 5 | 140688193 | T | C |
| rs801186 | 24510587 | 16 | AARS | umls:C0006142 | BeFree | We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). | 0.000271442 | 2013 | HARS | 5 | 140688193 | T | C |
| rs80356920 | 15350310 | 672 | BRCA1 | umls:C0006142 | BeFree | We identified the variants V1804D and M1628T at the transcriptional activation domain of BRCA1 of two ovarian cancer patients without a family history of ovarian or breast cancer. | 0.36 | 2004 | BRCA1 | 17 | 43047699 | A | T |
| rs80356948 | 14569185 | 672 | BRCA1 | umls:C0006142 | BeFree | Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mutation carriers, although these results are based on small numbers. | 0.36 | 2003 | BRCA1 | 17 | 43093184 | T | C |
| rs80356952 | 19071013 | 5245 | PHB | umls:C0006142 | BeFree | The PHB 1630 C/T single nucleotide polymorphism was associated with breast cancers with clinical features typical for BRCA1-positive tumours and is deserving of further study. | 0.01198705 | 2009 | BRCA1 | 17 | 43093901 | G | A |
| rs80357112 | 22684231 | 672 | BRCA1 | umls:C0006142 | BeFree | The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in trans with the deleterious BRCA1 mutation c.798_799delTT/p.Ser267LysfsX19 in young breast cancer patient. | 0.36 | 2012 | BRCA1 | 17 | 43051063 | C | T,G,A |
| rs80357244 | 8723683 | 672 | BRCA1 | umls:C0006142 | UNIPROT | Mutations in the BRCA1 gene in Japanese breast cancer patients. | 0.36 | 1996 | BRCA1 | 17 | 43094720 | C | T,G,A |
| rs80357272 | 8723683 | 672 | BRCA1 | umls:C0006142 | UNIPROT | Mutations in the BRCA1 gene in Japanese breast cancer patients. | 0.36 | 1996 | BRCA1 | 17 | 43092083 | G | A |
| rs80357368 | 17005433 | 2348 | FOLR1 | umls:C0006142 | BeFree | Our findings indicate that Ser1841Asn BRCA1 mutation is able to activate specific protein pathways that are not triggered by other single aminoacid changes and pinpoint to the role TD52 and FOL1 as potential markers in breast cancer patients carrying this particular BRCA1 gene alteration. | 0.000271442 | 2007 | BRCA1 | 17 | 43045748 | C | T |
| rs80357368 | 17005433 | 7163 | TPD52 | umls:C0006142 | BeFree | Our findings indicate that Ser1841Asn BRCA1 mutation is able to activate specific protein pathways that are not triggered by other single aminoacid changes and pinpoint to the role TD52 and FOL1 as potential markers in breast cancer patients carrying this particular BRCA1 gene alteration. | 0.003257302 | 2007 | BRCA1 | 17 | 43045748 | C | T |
| rs80357368 | 17005433 | 672 | BRCA1 | umls:C0006142 | BeFree | Our findings indicate that Ser1841Asn BRCA1 mutation is able to activate specific protein pathways that are not triggered by other single aminoacid changes and pinpoint to the role TD52 and FOL1 as potential markers in breast cancer patients carrying this particular BRCA1 gene alteration. | 0.36 | 2007 | BRCA1 | 17 | 43045748 | C | T |
| rs80357382 | 18451254 | 672 | BRCA1 | umls:C0006142 | BeFree | There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast cancer penetrance. | 0.36 | 2008 | BRCA1 | 17 | 43106457 | T | C |
| rs80357400 | 16760288 | 672 | BRCA1 | umls:C0006142 | BeFree | Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study. | 0.36 | 2006 | BRCA1 | 17 | 43094073 | A | T,C |
| rs80357473 | 19205873 | 672 | BRCA1 | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.36 | 2009 | BRCA1 | 17 | 43082562 | A | G |
| rs80357473 | 19205873 | 641 | BLM | umls:C0006142 | BeFree | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. | 0.010086957 | 2009 | BRCA1 | 17 | 43082562 | A | G |
| rs80357724 | 22684231 | 672 | BRCA1 | umls:C0006142 | BeFree | The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in trans with the deleterious BRCA1 mutation c.798_799delTT/p.Ser267LysfsX19 in young breast cancer patient. | 0.36 | 2012 | BRCA1 | 17 | 43094732 | AA | - |
| rs80358527 | 18523885 | 7040 | TGFB1 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.09001189 | 2009 | BRCA2 | 13 | 32316486 | C | T |
| rs80358527 | 18523885 | 672 | BRCA1 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.36 | 2009 | BRCA2 | 13 | 32316486 | C | T |
| rs80358527 | 18523885 | 675 | BRCA2 | umls:C0006142 | BeFree | No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. | 0.48 | 2009 | BRCA2 | 13 | 32316486 | C | T |
| rs80358561 | 14735197 | 675 | BRCA2 | umls:C0006142 | BeFree | DNA sequencing from III: 22 (diagnosed with lobular BC) identified a BRCA2 exon 3 542G>T (L105X) mutation. | 0.48 | 2004 | BRCA2 | 13 | 32319323 | T | G |
| rs80359065 | 12442274 | 675 | BRCA2 | umls:C0006142 | UNIPROT | BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. | 0.48 | 2002 | BRCA2 | 13 | 32363389 | G | A,T |
| rs80359065 | 12750298 | 675 | BRCA2 | umls:C0006142 | BeFree | Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002]. | 0.48 | 2003 | BRCA2 | 13 | 32363389 | G | A,T |
| rs80359228 | 11139248 | 675 | BRCA2 | umls:C0006142 | UNIPROT | Breast cancer is a rare disease in men.Germ-line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases. | 0.48 | 2001 | BRCA2 | 13 | 32396982 | A | G |
| rs8100241 | 22976474 | 126549 | ANKLE1 | umls:C0006142 | GWASCAT | A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. | 0.122367032 | 2012 | ANKLE1 | 19 | 17282085 | G | A |
| rs8108419 | 23918832 | 2099 | ESR1 | umls:C0006142 | BeFree | Lemur tyrosine kinase-3 (LMTK3) was recently identified as an estrogen receptor (ER)-α modulator related to endocrine therapy resistance, and its polymorphisms rs9989661 (T>C) T/T genotype and rs8108419 (G>A) G/G or A/G genotype predicted improved outcomes in breast cancer. | 0.24 | 2014 | LMTK3 | 19 | 48490583 | G | A |
| rs8108419 | 23918832 | 114783 | LMTK3 | umls:C0006142 | BeFree | Lemur tyrosine kinase-3 (LMTK3) was recently identified as an estrogen receptor (ER)-α modulator related to endocrine therapy resistance, and its polymorphisms rs9989661 (T>C) T/T genotype and rs8108419 (G>A) G/G or A/G genotype predicted improved outcomes in breast cancer. | 0.000814326 | 2014 | LMTK3 | 19 | 48490583 | G | A |
| rs8124792 | 21828234 | 36 | ACADSB | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | NA | 20 | 54150268 | G | A |
| rs8124792 | 21828234 | 80007 | C10orf88 | umls:C0006142 | BeFree | Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). | 0.000271442 | 2011 | NA | 20 | 54150268 | G | A |
| rs8141691 | 25002657 | 10587 | TXNRD2 | umls:C0006142 | BeFree | Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated with percent MD (P = 0.019 and 0.03, respectively), with the 6q25.1-rs9383938 association being consistent with the SNP effect on breast cancer risk. | 0.008729747 | 2015 | TXNRD2 | 22 | 19921903 | G | A |
| rs8150 | 25229211 | 406 | ARNTL | umls:C0006142 | BeFree | For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population. | 0.001628651 | 2015 | AANAT;RHBDF2 | 17 | 76470935 | G | C |
| rs8150 | 25229211 | 15 | AANAT | umls:C0006142 | BeFree | For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population. | 0.000814326 | 2015 | AANAT;RHBDF2 | 17 | 76470935 | G | C |
| rs8170 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23535733 | 29086 | BABAM1 | umls:C0006142 | GWASCAT | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. | 0.120814326 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23136140 | 5241 | PGR | umls:C0006142 | BeFree | Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. | 0.132074704 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23136140 | 7015 | TERT | umls:C0006142 | BeFree | Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. | 0.13842571 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 20852631 | 29086 | BABAM1 | umls:C0006142 | GWASCAT | A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. | 0.120814326 | 2010 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 24528085 | 999 | CDH1 | umls:C0006142 | BeFree | Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. | 0.026221579 | 2014 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8170 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | BABAM1 | 19 | 17278895 | G | A |
| rs8175347 | 22199302 | 3292 | HSD17B1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.04194414 | 2011 | NA | NA | NA | NA | NA |
| rs8175347 | 23935996 | 1588 | CYP19A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.113930234 | 2013 | NA | NA | NA | NA | NA |
| rs8175347 | 23935996 | 54658 | UGT1A1 | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.027741948 | 2013 | NA | NA | NA | NA | NA |
| rs8175347 | 23935996 | 5241 | PGR | umls:C0006142 | BeFree | We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. | 0.132074704 | 2013 | NA | NA | NA | NA | NA |
| rs8175347 | 22199302 | 2099 | ESR1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.24 | 2011 | NA | NA | NA | NA | NA |
| rs8175347 | 22199302 | 1312 | COMT | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.101172466 | 2011 | NA | NA | NA | NA | NA |
| rs8175347 | 22199302 | 54658 | UGT1A1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.027741948 | 2011 | NA | NA | NA | NA | NA |
| rs8178097 | 17764108 | 7486 | WRN | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.010553895 | 2008 | PRKDC | 8 | 47888479 | A | G |
| rs8178097 | 17764108 | 5591 | PRKDC | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.011639663 | 2008 | PRKDC | 8 | 47888479 | A | G |
| rs8178097 | 17764108 | 672 | BRCA1 | umls:C0006142 | BeFree | In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05). | 0.36 | 2008 | PRKDC | 8 | 47888479 | A | G |
| rs8190315 | 19423537 | 637 | BID | umls:C0006142 | BeFree | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. | 0.005819831 | 2009 | BID | 22 | 17743998 | T | C |
| rs8191979 | 15308584 | 3630 | INS | umls:C0006142 | BeFree | The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect in breast cancer. | 0.046612057 | 2004 | SHC1 | 1 | 154966186 | T | C,A |
| rs8191979 | 15308584 | 6464 | SHC1 | umls:C0006142 | BeFree | The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect in breast cancer. | 0.003181358 | 2004 | SHC1 | 1 | 154966186 | T | C,A |
| rs826943 | 21630024 | 6790 | AURKA | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.038252236 | 2011 | MYBL2 | 20 | 43666053 | C | T |
| rs826943 | 21630024 | 7764 | ZNF217 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.00434307 | 2011 | MYBL2 | 20 | 43666053 | C | T |
| rs826943 | 21630024 | 4605 | MYBL2 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.002171535 | 2011 | MYBL2 | 20 | 43666053 | C | T |
| rs826944 | 21630024 | 7764 | ZNF217 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.00434307 | 2011 | MYBL2 | 20 | 43666079 | T | A,C |
| rs826944 | 21630024 | 4605 | MYBL2 | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.002171535 | 2011 | MYBL2 | 20 | 43666079 | T | A,C |
| rs826944 | 21630024 | 6790 | AURKA | umls:C0006142 | BeFree | In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). | 0.038252236 | 2011 | MYBL2 | 20 | 43666079 | T | A,C |
| rs828907 | 23098447 | 2547 | XRCC6 | umls:C0006142 | BeFree | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A>G), rs132788 (G>T) and rs132793 (G>A) in XRCC6 gene might be risk factors for breast cancer, while the rs132788 (G>T) and rs6002421 (A>G) in XRCC6 gene might be protective. | 0.014549579 | 2012 | XRCC5 | 2 | 216108009 | G | T |
| rs833052 | 22315135 | 2258 | FGF13 | umls:C0006142 | BeFree | Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109324, rs154765 and rs833052, one polymorphism at the promoter of the VEGFR1 (-710 C/T) and another in the FGF2, rs1449683, gene to explore their association with BC susceptibility. | 0.002442977 | 2012 | NA | 6 | 43755598 | A | C |
| rs854560 | 21229382 | 5444 | PON1 | umls:C0006142 | BeFree | Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with breast cancer risk and their clinical significance. | 0.010358398 | 2011 | PON1 | 7 | 95316772 | A | C,G,N,T |
| rs861539 | 18701435 | 7517 | XRCC3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.084507108 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 17116943 | 7517 | XRCC3 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.084507108 | 2006 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 20054644 | 7517 | XRCC3 | umls:C0006142 | GAD | [Our results suggested that the variability of the DNA HR repair genes XRCC3 and RAD51D may play a role in BC risk, but this role may be underlined by a mutual interaction between these genes.] | 0.084507108 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16485136 | 7517 | XRCC3 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.084507108 | 2006 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 20004634 | 7517 | XRCC3 | umls:C0006142 | BeFree | Additionally, after stratification according to menopausal status, our results suggest that post-menopausal women carrying at least one variant allele for the XRCC3 (Ex8-5C>T, T241M, rs861539) polymorphism have a lower risk for breast cancer [adjusted OR=0.67; 95% CI, 0.47-0.94] (P=0.03). | 0.084507108 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 17701750 | 7517 | XRCC3 | umls:C0006142 | BeFree | The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in a Thai population. | 0.084507108 | 2007 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16485136 | 59348 | ZNF350 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.009272631 | 2006 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16214912 | 7517 | XRCC3 | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.084507108 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 18701435 | 5424 | POLD1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.008729747 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 21701125 | 7517 | XRCC3 | umls:C0006142 | BeFree | Instead, significant association was identified between XRCC2 Arg188His or XRCC3 Thr241Met polymorphism and breast cancer progression, assessed by the histological grading. | 0.084507108 | 2011 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25340946 | 7515 | XRCC1 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.098186605 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 22611952 | 7517 | XRCC3 | umls:C0006142 | BeFree | The association between polymorphisms of the RAD51-G135C, XRCC2-Arg188His and XRCC3-Thr241Met genes and clinico-pathologic features in breast cancer in Poland. | 0.084507108 | 2012 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 22864780 | 7517 | XRCC3 | umls:C0006142 | BeFree | Single nucleotide polymorphism (SNP) Thr241Met in the XRCC3 gene and breast cancer risk in Polish women. | 0.084507108 | 2012 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15066923 | 7515 | XRCC1 | umls:C0006142 | BeFree | Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. | 0.098186605 | 2004 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16214912 | 7516 | XRCC2 | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.036200253 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 18701435 | 2956 | MSH6 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.015363904 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 18701435 | 7515 | XRCC1 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.098186605 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25340946 | 7517 | XRCC3 | umls:C0006142 | BeFree | Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt. | 0.084507108 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 17063279 | 7517 | XRCC3 | umls:C0006142 | BeFree | Genetic polymorphism of XRCC3 Thr241Met and breast cancer risk: case-control study in Korean women and meta-analysis of 12 studies. | 0.084507108 | 2007 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16214912 | 4683 | NBN | umls:C0006142 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.193953213 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15066923 | 7517 | XRCC3 | umls:C0006142 | BeFree | Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. | 0.084507108 | 2004 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 17116943 | 7515 | XRCC1 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.098186605 | 2006 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25169497 | 7517 | XRCC3 | umls:C0006142 | BeFree | Association between the XRCC3 Thr241Met polymorphism and breast cancer risk: an updated meta-analysis of 36 case-control studies. | 0.084507108 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25556451 | 7516 | XRCC2 | umls:C0006142 | BeFree | Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan. | 0.036200253 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 18701435 | 2073 | ERCC5 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.018740759 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 19789975 | 7517 | XRCC3 | umls:C0006142 | BeFree | XRCC3 Thr241Met polymorphism and breast cancer risk: a meta-analysis. | 0.084507108 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 23562721 | 7517 | XRCC3 | umls:C0006142 | BeFree | In summary, this meta-analysis suggests the participation of XRCC3 T241M in the susceptibility for bladder cancer and breast cancer, especially in Caucasians, and XRCC3 T241M polymorphism is associated with decreased lung cancer risk. | 0.084507108 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 17116943 | 595 | CCND1 | umls:C0006142 | BeFree | We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). | 0.105537483 | 2006 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16485136 | 675 | BRCA2 | umls:C0006142 | BeFree | In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. | 0.48 | 2006 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 18701435 | 7508 | XPC | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.023474823 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 18701435 | 4437 | MSH3 | umls:C0006142 | BeFree | Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. | 0.012605878 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs865686 | 22348646 | 1029 | CDKN2A | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.043366024 | 2012 | LOC105376214 | 9 | 108126198 | G | T |
| rs865686 | 22348646 | 2099 | ESR1 | umls:C0006142 | BeFree | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). | 0.24 | 2012 | LOC105376214 | 9 | 108126198 | G | T |
| rs865686 | 22348646 | 57178 | ZMIZ1 | umls:C0006142 | BeFree | Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). | 0.120542884 | 2012 | LOC105376214 | 9 | 108126198 | G | T |
| rs865686 | 25652398 | 2099 | ESR1 | umls:C0006142 | BeFree | We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. | 0.24 | 2015 | LOC105376214 | 9 | 108126198 | G | T |
| rs865686 | 22859399 | 2099 | ESR1 | umls:C0006142 | BeFree | 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium. | 0.24 | 2012 | LOC105376214 | 9 | 108126198 | G | T |
| rs8679 | 22166496 | 25976 | TIPARP | umls:C0006142 | BeFree | The PARP-1 SNP rs8679 was also genotyped in a breast cancer case-control series (257 cases and 512 controls). | 0.002171535 | 2012 | PARP1 | 1 | 226360853 | A | G |
| rs8679 | 22166496 | 142 | PARP1 | umls:C0006142 | BeFree | Without adjustment for multiple testing, multivariate analysis demonstrated an association with increased bladder cancer risk with PARP1 rs8679 (P(trend) = 0.05) while variant homozygotes of PARP1 rs8679 were also noted to have an increased breast cancer risk (P = 0.03). | 0.027339684 | 2012 | PARP1 | 1 | 226360853 | A | G |
| rs8734 | 21960110 | 100133941 | CD24 | umls:C0006142 | BeFree | CD24 Ala57Val polymorphism predicts pathologic complete response to sequential anthracycline- and taxane-based neoadjuvant chemotherapy for primary breast cancer. | 0.017915164 | 2012 | NA | NA | NA | NA | NA |
| rs8752 | 25003827 | 574436 | MIR485 | umls:C0006142 | BeFree | miR-485-5p binding site SNP rs8752 in HPGD gene is associated with breast cancer risk. | 0.000542884 | 2014 | HPGD | 4 | 174491326 | C | T |
| rs8752 | 25003827 | 3248 | HPGD | umls:C0006142 | BeFree | miR-485-5p binding site SNP rs8752 in HPGD gene is associated with breast cancer risk. | 0.001900093 | 2014 | HPGD | 4 | 174491326 | C | T |
| rs887205 | 23526039 | 406961 | MIR185 | umls:C0006142 | BeFree | Two miR-185 SNPs provided suggestive evidence of an inverse association with breast cancer risk (rs2008591, OR = 0.72 (95 % CI = 0.53-0.98, p value = 0.04) and rs887205, OR = 0.71 (95 % CI = 0.52-0.96, p value = 0.03), respectively) among African Americans. | 0.001357209 | 2013 | TANGO2;MIR185 | 22 | 20032550 | A | G |
| rs889312 | 22867275 | 4046 | LSP1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.161672698 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22452962 | 2263 | FGFR2 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.229599312 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 841 | CASP8 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.049197125 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | NA | 5 | 56736057 | C | A |
| rs889312 | 24595411 | 2099 | ESR1 | umls:C0006142 | BeFree | When stratified by estrogen receptor (ER) expression status, rs889312 was associated with both ER-positive and ER-negative breast cancers. | 0.24 | 2014 | NA | 5 | 56736057 | C | A |
| rs889312 | 21475998 | 4214 | MAP3K1 | umls:C0006142 | BeFree | We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to replicate in the 4-Corner's Breast Cancer Study of Hispanic (N = 565 cases and 714 controls) and non-Hispanic white (NHW) women (N = 1177 cases and 1330 controls). | 0.166482707 | 2011 | NA | 5 | 56736057 | C | A |
| rs889312 | 20809358 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Association between mitogen-activated protein kinase kinase kinase 1 rs889312 polymorphism and breast cancer risk: evidence from 59,977 subjects. | 0.166482707 | 2011 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 4046 | LSP1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.161672698 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 7040 | TGFB1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.09001189 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 20145138 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.166482707 | 2010 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.166482707 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22867275 | 27324 | TOX3 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.170011451 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 9497 | SLC4A7 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.131096779 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22452962 | 27324 | TOX3 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.170011451 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | NA | 5 | 56736057 | C | A |
| rs889312 | 22452962 | 4214 | MAP3K1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.166482707 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 18355772 | 27324 | TOX3 | umls:C0006142 | BeFree | A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. | 0.170011451 | 2008 | NA | 5 | 56736057 | C | A |
| rs889312 | 23225170 | 672 | BRCA1 | umls:C0006142 | BeFree | In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; and MAP3K1 rs889312, with BC risk in 351 BRCA1/2-negative Chilean BC cases and 802 controls. | 0.36 | 2013 | NA | 5 | 56736057 | C | A |
| rs889312 | 22867275 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.166482707 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 20145138 | 4046 | LSP1 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.161672698 | 2010 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 140468 | COX11P1 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.001085767 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22532573 | 2263 | FGFR2 | umls:C0006142 | BeFree | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. | 0.229599312 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 20809358 | 672 | BRCA1 | umls:C0006142 | BeFree | In conclusion, this meta-analysis suggests that the MAP3K1 rs889312 C allele is a low-penetrant risk factor for developing breast cancer, and there is limited evidence to indicate that MAP3K1 rs889312 polymorphism is associated with increased risk of breast cancer in BRCA1 mutation carriers. | 0.36 | 2011 | NA | 5 | 56736057 | C | A |
| rs889312 | 23634849 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Using publicly available CGEMS GWAS data to validate significant findings (N = 1,145 cases, N = 1,142 controls), rs889312 near MAP3K1 was confirmed to be associated with breast cancer risk (P = 0.04, OR 1.15, 95% CI 1.01-1.30). | 0.166482707 | 2013 | NA | 5 | 56736057 | C | A |
| rs889312 | 22867275 | 2263 | FGFR2 | umls:C0006142 | BeFree | Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19). | 0.229599312 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 22452962 | 2099 | ESR1 | umls:C0006142 | BeFree | In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). | 0.24 | 2012 | NA | 5 | 56736057 | C | A |
| rs889312 | 20145138 | 841 | CASP8 | umls:C0006142 | BeFree | Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). | 0.049197125 | 2010 | NA | 5 | 56736057 | C | A |
| rs889312 | 20809358 | 675 | BRCA2 | umls:C0006142 | BeFree | There was no evidence for significant association between MAP3K1 rs889312 polymorphism and breast cancer risk in BRCA1 and BRCA2 positive cohort for all comparison models. | 0.48 | 2011 | NA | 5 | 56736057 | C | A |
| rs889312 | 24759887 | 4214 | MAP3K1 | umls:C0006142 | BeFree | Genome-wide association studies (GWAS) have demonstrated that the single nucleotide polymorphism (SNP) MAP3K1 rs889312 is a genetic susceptibility marker significantly associated with a risk of hormone-related tumors such as breast cancer. | 0.166482707 | 2014 | NA | 5 | 56736057 | C | A |
| rs889312 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | NA | 5 | 56736057 | C | A |
| rs895819 | 22074121 | 407018 | MIR27A | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.003995683 | 2012 | LOC284454;MIR23A;MIR24-2;MIR27A | 19 | 13836478 | T | A,C,G |
| rs895819 | 22074121 | 693190 | MIR605 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.000542884 | 2012 | LOC284454;MIR23A;MIR24-2;MIR27A | 19 | 13836478 | T | A,C,G |
| rs895819 | 22074121 | 406941 | MIR149 | umls:C0006142 | BeFree | To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast cancer risk, SNPs located within hsa-miR-605 (rs2043556), hsa-miR-149 (rs2292832), hsa-miR-27a (rs895819), hsa-miR-196a-2 (rs11614913) and hsa-miR-618 (rs2682818) were selected, and their associations with breast cancer risk were analysed. | 0.001357209 | 2012 | LOC284454;MIR23A;MIR24-2;MIR27A | 19 | 13836478 | T | A,C,G |
| rs895919 | 23982873 | 693190 | MIR605 | umls:C0006142 | BeFree | In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913*T, miR-499 rs3746444*T, miR-605 rs2043556*A, and miR-27a rs895919*C alleles might be protective factors for breast cancer. | 0.000542884 | 2013 | NA | 11 | 132360808 | T | C |
| rs903263 | 23001122 | 5567 | PRKACB | umls:C0006142 | GWASCAT | Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. | 0.12 | 2012 | PRKACB | 1 | 84156830 | G | T |
| rs905883 | 17903305 | 4481 | MSR1 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.000814326 | 2007 | ERBB4 | 2 | 212323745 | C | T,G |
| rs905883 | 17903305 | 2066 | ERBB4 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.132214884 | 2007 | ERBB4 | 2 | 212323745 | C | T,G |
| rs906296 | 24036662 | 864 | RUNX3 | umls:C0006142 | BeFree | After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98). | 0.004614512 | 2013 | RUNX3;LOC105376878 | 1 | 24938167 | C | G |
| rs906296 | 24036662 | 8878 | SQSTM1 | umls:C0006142 | BeFree | After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98). | 0.001628651 | 2013 | RUNX3;LOC105376878 | 1 | 24938167 | C | G |
| rs906296 | 24036662 | 7040 | TGFB1 | umls:C0006142 | BeFree | After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98). | 0.09001189 | 2013 | RUNX3;LOC105376878 | 1 | 24938167 | C | G |
| rs909116 | 20453838 | 7140 | TNNT3 | umls:C0006142 | GWASCAT | Genome-wide association study identifies five new breast cancer susceptibility loci. | 0.12 | 2010 | TNNT3 | 11 | 1920716 | T | C |
| rs920778 | 25586347 | 100124700 | HOTAIR | umls:C0006142 | BeFree | Effect of HOTAIR rs920778 polymorphism on breast cancer susceptibility and clinicopathologic features in a Turkish population. | 0.003528744 | 2014 | HOTAIR | 12 | 53966448 | G | A |
| rs9282861 | 25385181 | 6817 | SULT1A1 | umls:C0006142 | BeFree | Recently, SULT1A1 common functional polymorphism Arg(213)His (638G>A) variant has been found to be associated with increased breast cancer (BC) risk, particularly in post-menopausal women. | 0.088957582 | 2014 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 25225888 | 6817 | SULT1A1 | umls:C0006142 | BeFree | SULT1A1 Arg213His didn't show any association with breast cancer, but the possible risk in Asian population needs further investigation. | 0.088957582 | 2014 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 25648141 | 2952 | GSTT1 | umls:C0006142 | BeFree | Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be uselful genetic markers for breast cancer prognosis. | 0.09601507 | 2015 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 19949855 | 6817 | SULT1A1 | umls:C0006142 | BeFree | SULT1A1 R213H polymorphism and breast cancer risk: a meta-analysis based on 8,454 cases and 11,800 controls. | 0.088957582 | 2010 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 25648141 | 6817 | SULT1A1 | umls:C0006142 | BeFree | Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be uselful genetic markers for breast cancer prognosis. | 0.088957582 | 2015 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 22011087 | 6817 | SULT1A1 | umls:C0006142 | BeFree | SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case-control study and meta-analysis. | 0.088957582 | 2012 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 22708928 | 6817 | SULT1A1 | umls:C0006142 | BeFree | SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in breast cancer? | 0.088957582 | 2012 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs930395 | 20095854 | 10884 | MRPS30 | umls:C0006142 | BeFree | In exploratory analyses, we found that the radiation-associated breast cancer risk varied significantly by linked markers in 5p12 (rs930395, rs10941679, rs2067980 and rs4415084) in the mitochondrial ribosomal protein S30 (MRPS30) gene (P(interaction) = 0.04). | 0.003724241 | 2010 | NA | 5 | 44822356 | G | A |
| rs9325782 | 17903305 | 2066 | ERBB4 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.132214884 | 2007 | NA | 8 | 16232964 | C | T |
| rs9325782 | 17903305 | 4481 | MSR1 | umls:C0006142 | BeFree | In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer. | 0.000814326 | 2007 | NA | 8 | 16232964 | C | T |
| rs9340799 | 22199302 | 3292 | HSD17B1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.04194414 | 2011 | ESR1 | 6 | 151842246 | A | G |
| rs9340799 | 22199302 | 2099 | ESR1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.24 | 2011 | ESR1 | 6 | 151842246 | A | G |
| rs9340799 | 22199302 | 54658 | UGT1A1 | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.027741948 | 2011 | ESR1 | 6 | 151842246 | A | G |
| rs9340799 | 22199302 | 1312 | COMT | umls:C0006142 | BeFree | However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. | 0.101172466 | 2011 | ESR1 | 6 | 151842246 | A | G |
| rs9383935 | 25116933 | 80129 | CCDC170 | umls:C0006142 | BeFree | The results of this study suggest that the functional variant rs9383935, located at the 3' UTR of CCDC170, may be one candidate of the causal variants at 6q25.1 that modulate the risk of breast cancer. | 0.123181358 | 2014 | CCDC170 | 6 | 151618713 | C | T |
| rs9383935 | 25116933 | 2099 | ESR1 | umls:C0006142 | BeFree | Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and rs2228480 and rs3798758 in ESR1-with variant allele attributed odds ratios (ORs) of 1.38 (95% confidence interval (CI): 1.20 to 1.57, P=2.21×10(-6)), 0.84 (95% CI: 0.72 to 0.98, P=0.025) and 1.19 (95% CI: 1.04 to 1.37, P=0.013), respectively. | 0.24 | 2014 | CCDC170 | 6 | 151618713 | C | T |
| rs9383938 | 21263130 | 2099 | ESR1 | umls:C0006142 | BeFree | We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR1), which were associated with breast cancer in subjects of northern European ancestry (rs3734805: OR = 1.19, 95% CI = 1.11 to 1.27, P = 1.35 × 10(-7); rs9383938: OR = 1.18, 95% CI = 1.11 to 1.26, P = 1.41 × 10(-7)). | 0.24 | 2011 | NA | 6 | 151666222 | G | T |
| rs9383938 | 25002657 | 10587 | TXNRD2 | umls:C0006142 | BeFree | Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated with percent MD (P = 0.019 and 0.03, respectively), with the 6q25.1-rs9383938 association being consistent with the SNP effect on breast cancer risk. | 0.008729747 | 2015 | NA | 6 | 151666222 | G | T |
| rs93886 | 23629941 | 7014 | TERF2 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007915422 | 2013 | NA | NA | NA | NA | NA |
| rs93886 | 23629941 | 8658 | TNKS | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.007372538 | 2013 | NA | NA | NA | NA | NA |
| rs93886 | 23629941 | 7015 | TERT | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.13842571 | 2013 | NA | NA | NA | NA | NA |
| rs93886 | 23629941 | 7011 | TEP1 | umls:C0006142 | BeFree | Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). | 0.005005506 | 2013 | NA | NA | NA | NA | NA |
| rs9397435 | 21593217 | 2099 | ESR1 | umls:C0006142 | BeFree | Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). | 0.24 | 2011 | LOC105378058 | 6 | 151630085 | A | G |
| rs941764 | 23535729 | 440193 | CCDC88C | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.120271442 | 2013 | CCDC88C | 14 | 91374725 | A | G |
| rs941764 | 23593120 | 55603 | FAM46A | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.000271442 | 2013 | CCDC88C | 14 | 91374725 | A | G |
| rs941764 | 23593120 | 1029 | CDKN2A | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.043366024 | 2013 | CCDC88C | 14 | 91374725 | A | G |
| rs941764 | 23593120 | 440193 | CCDC88C | umls:C0006142 | BeFree | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. | 0.120271442 | 2013 | CCDC88C | 14 | 91374725 | A | G |
| rs9485372 | 22383897 | 56911 | MAP3K7CL | umls:C0006142 | BeFree | SNP rs9485372, near the TGF-β activated kinase (TAB2) gene in chromosome 6q25.1, showed a consistent association with breast cancer risk across all four stages, with a P-value of 3.8×10(-12) in the combined analysis of all samples. | 0.000271442 | 2012 | TAB2 | 6 | 149287738 | G | A |
| rs9485372 | 22383897 | 23118 | TAB2 | umls:C0006142 | BeFree | SNP rs9485372, near the TGF-β activated kinase (TAB2) gene in chromosome 6q25.1, showed a consistent association with breast cancer risk across all four stages, with a P-value of 3.8×10(-12) in the combined analysis of all samples. | 0.000542884 | 2012 | TAB2 | 6 | 149287738 | G | A |
| rs9485372 | 22383897 | 2099 | ESR1 | umls:C0006142 | BeFree | This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively. | 0.24 | 2012 | TAB2 | 6 | 149287738 | G | A |
| rs963917 | 25566853 | 55655 | NLRP2 | umls:C0006142 | BeFree | NBS1 rs2735383, RAD51 rs963917 and rs963918 were associated with BC risk after stratification according to reproductive factors. | 0.007871814 | 2014 | RAD51B | 14 | 68595606 | G | A |
| rs963918 | 25566853 | 55655 | NLRP2 | umls:C0006142 | BeFree | NBS1 rs2735383, RAD51 rs963917 and rs963918 were associated with BC risk after stratification according to reproductive factors. | 0.007871814 | 2014 | RAD51B | 14 | 68595397 | C | T |
| rs967591 | 18289367 | 10848 | PPP1R13L | umls:C0006142 | BeFree | The haplotype at chromosome 19q13.2-3 encompassing the three SNPs ASE-1 G-21A, RAI IVS1 A4364G and ERCC1 Asn118Asn have been associated with risk of breast cancer and lung cancer. | 0.003452799 | 2008 | PPP1R13L;CD3EAP | 19 | 45406676 | G | A |
| rs967591 | 18289367 | 2067 | ERCC1 | umls:C0006142 | BeFree | The haplotype at chromosome 19q13.2-3 encompassing the three SNPs ASE-1 G-21A, RAI IVS1 A4364G and ERCC1 Asn118Asn have been associated with risk of breast cancer and lung cancer. | 0.017806881 | 2008 | PPP1R13L;CD3EAP | 19 | 45406676 | G | A |
| rs969485 | 23822714 | 15 | AANAT | umls:C0006142 | BeFree | After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420). | 0.000814326 | 2013 | ARNTL;LOC105376559 | 11 | 13381496 | G | A |
| rs974334 | 25416100 | 6649 | SOD3 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000542884 | 2014 | GPX6 | 6 | 28506441 | C | G |
| rs974334 | 25416100 | 4968 | OGG1 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.026189242 | 2014 | GPX6 | 6 | 28506441 | C | G |
| rs974334 | 25416100 | 257202 | GPX6 | umls:C0006142 | BeFree | The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6), rs974334 (GPX6), rs105213 (OGG1) and rs2284659 (SOD3) (p-value = 0.0008) with high-risk genotype combination showing increased risk for breast cancer (OR = 1.75 [95% CI; 1.26-2.44]). | 0.000271442 | 2014 | GPX6 | 6 | 28506441 | C | G |
| rs9790517 | 23535729 | 54790 | TET2 | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.121628651 | 2013 | TET2 | 4 | 105163621 | C | T |
| rs9874 | 24278290 | 7296 | TXNRD1 | umls:C0006142 | BeFree | Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. | 0.009001189 | 2013 | VIMP | 15 | 101271199 | T | C |
| rs989902 | 24338422 | 5783 | PTPN13 | umls:C0006142 | BeFree | Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in TCF7L2 with variations in the risk of breast cancer in a Chinese Han population. | 0.001357209 | 2014 | PTPN13 | 4 | 86785353 | T | G |
| rs989902 | 24338422 | 6934 | TCF7L2 | umls:C0006142 | BeFree | Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in TCF7L2 with variations in the risk of breast cancer in a Chinese Han population. | 0.126710102 | 2014 | PTPN13 | 4 | 86785353 | T | G |
| rs989902 | 24338422 | 4292 | MLH1 | umls:C0006142 | BeFree | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. | 0.022345448 | 2014 | PTPN13 | 4 | 86785353 | T | G |
| rs9904779 | 25339205 | 239 | ALOX12 | umls:C0006142 | BeFree | We observed increases in breast cancer risk in stratified analyses by tertiles of polyunsaturated fat intake for ALOX12 polymorphisms; the largest increase in risk was among women in the highest tertile with ALOX12 rs9904779CC (Odds Ratio (OR), 1.49; 95% Confidence Interval (CI) 1.14-1.94, P(adj) = 0.01). | 0.000814326 | 2014 | ALOX12;ALOX12-AS1 | 17 | 6995296 | C | G |
| rs997669 | 18174243 | 898 | CCNE1 | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.013539756 | 2008 | CCNE1 | 19 | 29813576 | T | C |
| rs997669 | 18174243 | 1029 | CDKN2A | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.043366024 | 2008 | CCNE1 | 19 | 29813576 | T | C |
| rs997669 | 18174243 | 1027 | CDKN1B | umls:C0006142 | BeFree | This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). | 0.034408443 | 2008 | CCNE1 | 19 | 29813576 | T | C |
| rs9989661 | 23918832 | 2099 | ESR1 | umls:C0006142 | BeFree | Lemur tyrosine kinase-3 (LMTK3) was recently identified as an estrogen receptor (ER)-α modulator related to endocrine therapy resistance, and its polymorphisms rs9989661 (T>C) T/T genotype and rs8108419 (G>A) G/G or A/G genotype predicted improved outcomes in breast cancer. | 0.24 | 2014 | LMTK3 | 19 | 48510834 | T | C |
| rs9989661 | 23918832 | 114783 | LMTK3 | umls:C0006142 | BeFree | Lemur tyrosine kinase-3 (LMTK3) was recently identified as an estrogen receptor (ER)-α modulator related to endocrine therapy resistance, and its polymorphisms rs9989661 (T>C) T/T genotype and rs8108419 (G>A) G/G or A/G genotype predicted improved outcomes in breast cancer. | 0.000814326 | 2014 | LMTK3 | 19 | 48510834 | T | C |
| rs999737 | 21791674 | 140468 | COX11P1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.001085767 | 2011 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 21791674 | 1277 | COL1A1 | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.122909916 | 2011 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23593120 | 2263 | FGFR2 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.229599312 | 2013 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 21791674 | 5890 | RAD51B | umls:C0006142 | BeFree | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. | 0.132453989 | 2011 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 19330030 | 5890 | RAD51B | umls:C0006142 | GWASCAT | A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). | 0.132453989 | 2009 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23535729 | 5890 | RAD51B | umls:C0006142 | GWASCAT | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | 0.132453989 | 2013 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23593120 | 5890 | RAD51B | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.132453989 | 2013 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23593120 | 79068 | FTO | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.121900093 | 2013 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23593120 | 7015 | TERT | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.13842571 | 2013 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23593120 | 29086 | BABAM1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.120814326 | 2013 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 19330030 | 5890 | RAD51B | umls:C0006142 | GAD | [A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).] | 0.132453989 | 2009 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 24729084 | 5890 | RAD51B | umls:C0006142 | BeFree | Large-scale genome-wide association studies (GWAS) have been conducted and reported the association between rs999737 polymorphism at 14q24.1 (RAD51L1) and breast cancer risk. | 0.132453989 | 2014 | RAD51B | 14 | 68567965 | C | T |
| rs999737 | 23593120 | 7141 | TNP1 | umls:C0006142 | BeFree | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). | 0.000271442 | 2013 | RAD51B | 14 | 68567965 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:2042) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 1322654 | rs151152085 | C | T | rs151152085 | 23555315 | 0.000061 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 8386730 | rs9628987 | A | C | rs9628987 | 23468962 | 5.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 1 | 8397995 | rs202161082 | G | A | rs202161082 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 1 | 10566215 | rs616488 | A | G | rs616488 | 23535729 | 2.00E-10 | NA | 1.06 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs616488-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 10566215 | rs616488 | A | G | rs616488 | 23535733 | 1.00E-08 | NA | 1.1 | [1.06-1.14] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs616488-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 11009844 | rs138476809 | G | A | rs138476809 | 23555315 | 0.00044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 12175658 | rs2230624 | G | A,T | rs2230624 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 18052645 | rs260514 | G | A | rs260514 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 21051116 | rs149579175 | G | A | rs149579175 | 23555315 | 0.00022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 22188296 | rs142149919 | G | A | rs142149919 | 23555315 | 0.00000049 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 22571462 | rs2744747 | T | C | rs2744747 | 22675492 | 7.60E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 22573942 | rs909814 | T | C | rs909814 | 22675492 | 9.00E-07 | NA | 0.1 | [NA] unit increase | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs909814-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 22577937 | rs2744757 | C | G | rs2744757 | 22675492 | 5.20E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 22578063 | rs2807339 | T | C | rs2807339 | 22675492 | 3.10E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 26582091 | rs3795686 | G | A | rs3795686 | 23555315 | 0.00076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 27677375 | rs187197622 | G | A | rs187197622 | 23555315 | 0.000038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 27731651 | rs11548323 | C | T | rs11548323 | 23518928 | 2.00E-06 | NA | 1.4 | [1.219-1.598] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 1 | 33928758 | rs12565140 | T | C | rs12565140 | 23518928 | 3.00E-07 | NA | 1.43 | [1.247-1.629] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 1 | 36786521 | rs200307550 | A | G | rs200307550 | 23555315 | 0.00014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 1 | 36786521 | rs200307550 | A | G | rs200307550 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 1 | 38032607 | rs116251390 | C | T | rs116251390 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 40307719 | rs230310 | A | G | rs230310 | 24325915 | 6.00E-05 | NA | 1.18 | [1.09-1.28] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs230310-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 44290530 | rs37458 | A | G | rs37458 | 23555315 | 0.00014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 45307506 | rs3795720 | G | A | rs3795720 | 21245432 | 0.00004 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45318752 | rs11211044 | C | T | rs11211044 | 21245432 | 0.00002 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45358527 | rs263975 | T | C | rs263975 | 21245432 | 0.00002 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45360287 | rs263977 | T | G | rs263977 | 21245432 | 0.00002 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45376737 | rs263966 | G | A | rs263966 | 21245432 | 0.00004 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45417184 | rs452989 | T | C | rs452989 | 21245432 | 0.00004 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45452227 | rs489676 | G | C | rs489676 | 21245432 | 0.00003 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 45460832 | rs264011 | A | G | rs264011 | 21245432 | 0.00003 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 46633874 | rs3855959 | T | C | rs3855959 | 24325915 | 3.00E-05 | NA | 1.16 | [1.09-1.25] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 47284923 | rs12059860 | T | C | rs12059860 | 22675492 | 8.00E-06 | NA | 0.62 | [NA] unit increase | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs12059860-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 48299660 | rs12031340 | T | C | rs12031340 | 22675492 | 7.73E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 52344157 | rs138608728 | G | A | rs138608728 | 23555315 | 0.000012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 53377291 | rs139969883 | C | T | rs139969883 | 23555315 | 0.000069 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 54476084 | rs145889899 | C | T | rs145889899 | 23555315 | 0.00000014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 54476084 | rs145889899 | C | T | rs145889899 | 23555315 | 0.00000025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 56112774 | rs10443215 | C | T | rs10443215 | 24025145 | 9.00E-06 | Allelic | 9.39 | [2.77-31.80] | 62 Japanese ancestry cases; 42 Japanese ancestry controls | Japanese(104) | ALL(104) | ASN(104) | ALL(104) | Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10443215-C | Research Support, Non-U.S. Gov't | C | NA |
| 1 | 60704783 | rs4529739 | T | C | rs4529739 | 20332263 | 2.69E-06 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 61812773 | rs9436636 | G | A | rs9436636 | 22452962 | 5.30E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | NFIA |
| 1 | 63414144 | rs1931080 | G | T | rs1931080 | 22232737 | 9.10E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 1 | 65515533 | rs478665 | A | G | rs478665 | 23518928 | 1.00E-06 | NA | 1.77 | [1.407-2.233] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 1 | 70887099 | rs672203 | A | G | rs672203 | 24025145 | 2.00E-06 | Dominant | 5.33 | [2.59-11.00] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs672203-A | Research Support, Non-U.S. Gov't | T | CTH |
| 1 | 70934259 | rs8179319 | G | A | rs8179319 | 24025145 | 6.32E-06 | Allelic | 5.09 | [2.51-10.40] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs8179319-G | Research Support, Non-U.S. Gov't | A | NA |
| 1 | 75693501 | rs149696907 | G | A | rs149696907 | 23555315 | 0.000037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 80911114 | rs12118390 | G | A | rs12118390 | 23518928 | 3.00E-07 | NA | 2.25 | [1.658-3.06] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 1 | 84471134 | rs1886769 | C | A | rs1886769 | 21245432 | 0.00003 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 84622513 | rs903263 | G | T | rs903263 | 23001122 | 1.00E-06 | NA | 1.27 | [1.10-1.34] | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 1 | 89726438 | rs148301962 | G | A | rs148301962 | 23555315 | 0.000029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 95081445 | rs4474258 | C | T | rs4474258 | 24025145 | 5.00E-06 | Recessive | 1.89 | [1.29-2.75] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4474258-A | Research Support, Non-U.S. Gov't | C | NA |
| 1 | 107546375 | rs17496332 | A | G | rs17496332 | 22829776 | 1.00E-11 | Men + Women | 0.03 | [0.020-0.036] nmol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs17496332-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 1 | 107546375 | rs17496332 | A | G | rs17496332 | 22829776 | 2.00E-07 | Men | 0.03 | [0.017-0.037] nmol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs17496332-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 1 | 110280921 | rs146952826 | C | T | rs146952826 | 23555315 | 0.0000044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 110996652 | rs62623571 | C | T | rs62623571 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 114380886 | rs138092829 | T | C | rs138092829 | 23555315 | 0.0000016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 114442885 | rs141417436 | A | G | rs141417436 | 23555315 | 0.000041 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 114448389 | rs11552449 | C | A,G,T | rs11552449 | 23535729 | 2.00E-08 | NA | 1.07 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11552449-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 114670969 | rs2774307 | A | G | rs2774307 | 23319801 | 8.00E-06 | NA | 1.3 | [1.16-1.47] | 536 early-onset cases | NOPOP(536) | ALL(536) | NOPOP(536) | ALL(536) | Breast cancer (prognosis) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | SYT6 |
| 1 | 118441771 | rs77073478 | G | A | rs77073478 | 23555315 | 0.000015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 120384066 | rs140014891 | C | T | rs140014891 | 23555315 | 0.00048 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 121280613 | rs11249433 | A | G | rs11249433 | 19330030 | 7.00E-10 | NA | 1.16 | [1.09-1.24] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11249433-C | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | T |
| 1 | 121280613 | rs11249433 | A | G | rs11249433 | 23535729 | 2.00E-26 | NA | 1.09 | [1.07-1.11] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11249433-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 144922638 | rs141066291 | T | A | rs141066291 | 23555315 | 0.000079 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 145562149 | rs143087712 | C | A | rs143087712 | 23555315 | 0.000093 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 147020456 | rs594206 | A | C,G,T | rs594206 | 24025145 | 6.00E-07 | Dominant | 36.3 | [4.58-287.00] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs594206-A | Research Support, Non-U.S. Gov't | T | BCL9 |
| 1 | 152907785 | rs1999885 | G | C | rs1999885 | 20852631 | 4.33E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 1 | 153520235 | rs138355706 | G | A | rs138355706 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 156700651 | rs12145743 | T | G | rs12145743 | 23555315 | 0.00054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 156713558 | rs4399146 | G | A | rs4399146 | 23555315 | 0.0006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 160000435 | rs12409352 | A | T | rs12409352 | 23555315 | 0.000071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 161018422 | rs61733353 | C | G | rs61733353 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 163956503 | rs424950 | G | C | rs424950 | 22675492 | 5.00E-06 | NA | 0.08 | [NA] unit increase | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs424950-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 164689762 | rs1387389 | G | A | rs1387389 | 23319801 | 4.00E-06 | NA | 1.28 | [1.16-1.43] | 536 early-onset cases | NOPOP(536) | ALL(536) | NOPOP(536) | ALL(536) | Breast cancer (prognosis) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | PBX1 |
| 1 | 167849414 | rs203849 | A | G | rs203849 | 24143190 | 1.18E-05 | NA | 1.14 | [1.07-1.21] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs203849-G | Research Support, Non-U.S. Gov't | C | ADCY10 |
| 1 | 168269338 | rs2075976 | A | C | rs2075976 | 21060860 | 6.03E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 169788584 | rs2420510 | T | C | rs2420510 | 18463975 | 0.000404 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 1 | 181638511 | rs3820260 | C | T | rs3820260 | 17529974 | 3.90E-05 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | C |
| 1 | 182922215 | rs78487548 | G | T | rs78487548 | 23555315 | 0.00042 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 185878632 | rs60502467 | A | G | rs60502467 | 23555315 | 0.00081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 186313108 | rs58030082 | C | T | rs58030082 | 23555315 | 0.000013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 199441665 | rs1572565 | A | G | rs1572565 | 21245432 | 0.00005 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 1 | 201884952 | rs2819348 | T | C | rs2819348 | 22747683 | 3.00E-06 | NA | 0.08 | [0.045-0.111] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs2819348-C | NA | C | LMOD1 |
| 1 | 202187176 | rs6678914 | G | A | rs6678914 | 23535733 | 1.00E-08 | NA | 1.1 | [1.06-1.13] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 203054980 | rs115855025 | C | T | rs115855025 | 23555315 | 0.00089 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 203194834 | rs137852607 | C | T | rs137852607 | 23555315 | 0.00076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 203455902 | rs9439 | A | C | rs9439 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 203768328 | rs7552670 | T | C | rs7552670 | 18463975 | 0.000439 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 1 | 204516025 | rs2290854 | A | G | rs2290854 | 23544013 | 1.00E-07 | NA | 1.13 | [1.08-1.18] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs2290854-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204516025 | rs2290854 | A | G | rs2290854 | 23544013 | 1.21E-07 | Breast Cancer ER-negative in BRCA1 carriers | 1.16 | [1.10-1.22] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204516025 | rs2290854 | A | G | rs2290854 | 23544013 | 1.39E-07 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204516025 | rs2290854 | A | G | rs2290854 | 23544013 | 2.15E-04 | BRCA1 mutation class I | 1.27 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs2290854-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204516025 | rs2290854 | A | G | rs2290854 | 23544013 | 3.58E-05 | BRCA1 mutation class II | 1.53 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs2290854-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204518842 | rs4245739 | C | A | rs4245739 | 23535733 | 2.00E-12 | NA | 1.14 | [1.10-1.18] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 204518842 | rs4245739 | C | A | rs4245739 | 24325915 | 4.00E-06 | NA | 1.19 | [1.11-1.29] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4245739-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 1 | 204566183 | rs6682208 | T | C | rs6682208 | 23544013 | 1.64E-04 | BRCA1 mutation class II | 1.47 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs6682208-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204566183 | rs6682208 | T | C | rs6682208 | 23544013 | 2.65E-04 | BRCA1 mutation class I | 1.26 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs6682208-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204566183 | rs6682208 | T | C | rs6682208 | 23544013 | 4.00E-07 | NA | 1.12 | [1.07-1.17] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs6682208-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204566183 | rs6682208 | T | C | rs6682208 | 23544013 | 4.25E-07 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 204566183 | rs6682208 | T | C | rs6682208 | 23544013 | 5.43E-06 | Breast Cancer ER-negative in BRCA1 carriers | 1.13 | [1.07-1.20] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 213186688 | rs74825882 | C | G | rs74825882 | 23555315 | 0.000076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 213659876 | rs17702239 | G | A | rs17702239 | 18463975 | 0.000104 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 1 | 216632948 | rs10495024 | T | C | rs10495024 | 22675492 | 6.00E-06 | NA | 0.1 | [NA] unit decrease | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs10495024-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 227174318 | rs141270350 | C | T | rs141270350 | 23555315 | 1.20E-09 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 230822832 | rs143526339 | C | G | rs143526339 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 231004221 | rs185614261 | G | A | rs185614261 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 233122127 | rs41309639 | C | T | rs41309639 | 23555315 | 0.000027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 1 | 245636059 | rs1538472 | A | G | rs1538472 | pha002853 | 4.54E-05 | phs000147 | 1.57 | [1.28-1.92] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | KIF26B | intron | NM_018012 |
| 1 | 247471846 | rs139561401 | G | A | rs139561401 | 23555315 | 0.000058 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 247769412 | rs147517990 | C | A | rs147517990 | 23555315 | 0.00081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 5860402 | rs1864263 | T | A | rs1864263 | 18463975 | 0.000194 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 2 | 19286943 | rs4666451 | G | A | rs4666451 | 17529967 | 2.00E-07 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | NA |
| 2 | 19320803 | rs12710696 | T | C | rs12710696 | 23535733 | 5.00E-08 | NA | 1.1 | [1.06-1.13] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 20592798 | rs343155 | G | A | rs343155 | 17529974 | 1.50E-05 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | G |
| 2 | 21263886 | rs9282603 | A | G | rs9282603 | 23555315 | 0.00002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 26418053 | rs137852769 | C | G | rs137852769 | 23555315 | 0.0000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 26418053 | rs137852769 | C | G | rs137852769 | 23555315 | 0.00044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 27424304 | rs140443329 | C | T | rs140443329 | 23555315 | 0.00023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 27598097 | rs4665972 | T | C | rs4665972 | 22747683 | 1.00E-06 | NA | 0.08 | [0.047-0.113] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs4665972-T | NA | C | SNX17 |
| 2 | 27742603 | rs780093 | T | C | rs780093 | 22747683 | 5.00E-06 | NA | 0.07 | [0.041-0.103] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs780093-T | NA | G | GCKR |
| 2 | 27742603 | rs780093 | T | C | rs780093 | 22829776 | 2.00E-16 | Men + Women | 0.03 | [0.024-0.040] nmol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs780093-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 2 | 27742603 | rs780093 | T | C | rs780093 | 22829776 | 7.00E-08 | Men | 0.03 | [0.016-0.036] nmol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs780093-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 2 | 27742603 | rs780093 | T | C | rs780093 | 22829776 | 9.00E-11 | Women | 0.04 | [0.029-0.053] nmol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs780093-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 2 | 31461395 | rs590557 | G | A | rs590557 | 22675492 | 1.40E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 2 | 31465278 | rs649509 | C | A | rs649509 | 22675492 | 7.03E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 2 | 31474242 | rs597800 | G | C | rs597800 | 22675492 | 5.00E-07 | NA | 0.15 | [NA] unit decrease | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs597800-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 31474903 | rs611076 | G | A | rs611076 | 22675492 | 7.94E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 31477589 | rs654091 | G | A | rs654091 | 22675492 | 7.87E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 31479234 | rs671403 | G | A | rs671403 | 22675492 | 5.01E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 31479425 | rs672364 | G | A | rs672364 | 22675492 | 3.35E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 31481640 | rs622107 | T | C | rs622107 | 22675492 | 9.43E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 31485332 | rs669292 | T | C | rs669292 | 22675492 | 1.40E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 31488554 | rs617163 | C | T | rs617163 | 22675492 | 3.92E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 31489826 | rs644503 | G | C | rs644503 | 22675492 | 3.41E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 37513340 | rs141998414 | C | T | rs141998414 | 23555315 | 0.000058 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 37513340 | rs141998414 | C | T | rs141998414 | 23555315 | 0.0002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 43232117 | rs17030257 | C | T | rs17030257 | 19330027 | 6.30E-04 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 44705615 | rs698813 | A | G | rs698813 | 24025145 | 1.00E-06 | Allelic | 4.27 | [2.35-7.76] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs698813-C | Research Support, Non-U.S. Gov't | C | CAMKMT |
| 2 | 45995181 | rs3924521 | G | A | rs3924521 | 23555315 | 0.00034 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 46385339 | rs10205024 | A | G | rs10205024 | 22675492 | 1.68E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 2 | 48646399 | rs10454142 | T | C | rs10454142 | 22829776 | 1.00E-07 | Men + Women | 0.02 | [0.014-0.032] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs10454142-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 2 | 49245561 | rs3788981 | A | C | rs3788981 | 18463975 | 0.00025 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 2 | 52511794 | rs17042688 | G | T | rs17042688 | 23518928 | 1.00E-06 | NA | 1.91 | [1.474-2.476] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 2 | 52535407 | rs12475021 | T | G | rs12475021 | 23518928 | 1.36E-06 | NA | 1.92 | [1.476-2.492] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 2 | 59072516 | rs7592415 | A | G | rs7592415 | pha002853 | 1.56E-04 | phs000147 | 1.32 | [1.11-1.57] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | FLJ30838 | intron | NR_033873 |
| 2 | 59499347 | rs10490113 | A | C | rs10490113 | 17903305 | 5.00E-06 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 2 | 64495627 | rs1529102 | G | A | rs1529102 | 22747683 | 6.00E-06 | NA | 0.07 | [0.041-0.099] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs1529102-A | NA | T | NA |
| 2 | 70187809 | rs140244507 | G | A | rs140244507 | 23555315 | 0.000093 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 71376471 | rs115361918 | G | A | rs115361918 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 85705677 | rs11688246 | C | A | rs11688246 | 23518928 | 1.00E-07 | NA | 1.83 | [1.469-2.285] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 2 | 86310110 | rs2288118 | C | T | rs2288118 | pha002853 | 2.11E-04 | phs000147 | 1.45 | [1.20-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | POLR1A | intron | NM_015425 |
| 2 | 86330726 | rs10779967 | A | G | rs10779967 | pha002853 | 5.61E-05 | phs000147 | 1.72 | [1.35-2.17] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | POLR1A | intron | NM_015425 |
| 2 | 86337930 | rs1075622 | T | C | rs1075622 | pha002853 | 1.59E-04 | phs000147 | 1.45 | [1.19-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | PTCD3 | intron | NM_017952 |
| 2 | 86345536 | rs2367202 | A | G | rs2367202 | pha002853 | 2.09E-04 | phs000147 | 1.45 | [1.20-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | PTCD3 | intron | NM_017952 |
| 2 | 86350664 | rs1025104 | A | G | rs1025104 | pha002853 | 1.60E-04 | phs000147 | 1.47 | [1.22-1.79] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | PTCD3 | intron | NM_017952 |
| 2 | 97614936 | rs1257022 | C | T | rs1257022 | 19330027 | 7.40E-05 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 98827156 | rs7603439 | T | G | rs7603439 | pha002853 | 2.00E-04 | phs000147 | 1.3 | [1.08-1.56] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | VWA3B | intron | NM_144992 |
| 2 | 98912271 | rs6715989 | G | A | rs6715989 | pha002853 | 1.69E-04 | phs000147 | 1.27 | [1.06-1.49] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | VWA3B | intron | NM_144992 |
| 2 | 98949400 | rs7571001 | T | C | rs7571001 | pha002853 | 1.95E-04 | phs000147 | 1.25 | [1.05-1.49] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 2 | 100686486 | rs7582731 | T | C | rs7582731 | 23555315 | 0.00063 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T,C |
| 2 | 102029646 | rs12620464 | T | C | rs12620464 | 23518928 | 1.00E-06 | NA | 1.4 | [1.221-1.579] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 2 | 110959008 | rs145479679 | T | G | rs145479679 | 23555315 | 0.000000084 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 113539232 | rs142134831 | G | T | rs142134831 | 23555315 | 0.000000013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 113539232 | rs142134831 | G | T | rs142134831 | 23555315 | 0.0000082 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 120513133 | rs13401620 | G | A | rs13401620 | 22747683 | 2.00E-06 | NA | 0.1 | [0.056-0.134] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs13401620-A | NA | G | NA |
| 2 | 120513133 | rs61012141 | G | GTGCA | rs13401620 | 22747683 | 2.00E-06 | NA | 0.1 | [0.056-0.134] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs13401620-A | NA | G | NA |
| 2 | 121089731 | rs17625845 | T | C | rs17625845 | 22747683 | 5.00E-10 | NA | 0.13 | [0.086-0.164] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs17625845-C | NA | T | NA |
| 2 | 121245122 | rs4849887 | T | C | rs4849887 | 22747683 | 3.00E-11 | NA | 0.17 | [0.12-0.22] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs4849887-T | NA | T | NA |
| 2 | 121245122 | rs4849887 | T | C | rs4849887 | 23535729 | 4.00E-11 | NA | 1.1 | [1.06-1.14] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4849887-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 123602800 | rs296034 | C | T | rs296034 | 18463975 | 0.000316 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 2 | 127887985 | rs12989701 | C | A | rs12989701 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 134644096 | rs6711228 | C | T | rs6711228 | pha002853 | 6.58E-05 | phs000147 | 1.54 | [1.24-1.91] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 2 | 138818601 | rs1996872 | T | C | rs1996872 | 18463975 | 0.0000353 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 2 | 139544577 | rs4954956 | C | T | rs4954956 | 17529967 | 8.00E-06 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 2 | 151201613 | rs1441974 | A | G | rs1441974 | 18463975 | 0.0000356 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 2 | 152957411 | rs3820706 | T | C | rs3820706 | 24025145 | 2.00E-09 | Recessive | 2.38 | [1.44-3.93] | 303 Japanese ancestry cases; 880 Japanese ancestry controls | Japanese(1183) | ALL(1183) | ASN(1183) | ALL(1183) | Adverse response to chemotherapy in breast cancer (alopecia) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs3820706-G | Research Support, Non-U.S. Gov't | T | CACNB4 |
| 2 | 152981335 | rs16830728 | G | T | rs16830728 | 24025145 | 3.00E-08 | Recessive | 3.61 | [2.17-5.98] | 303 Japanese ancestry cases; 880 Japanese ancestry controls | Japanese(1183) | ALL(1183) | ASN(1183) | ALL(1183) | Adverse response to chemotherapy in breast cancer (alopecia) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs16830728-T | Research Support, Non-U.S. Gov't | G | STAM2 |
| 2 | 160878364 | rs17830558 | T | G | rs17830558 | 22232737 | 4.80E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 2 | 161889193 | rs2551691 | T | C | rs2551691 | pha002853 | 9.03E-05 | phs000147 | 1.54 | [1.25-1.89] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 2 | 161896152 | rs197275 | T | C | rs197275 | pha002853 | 4.42E-05 | phs000147 | 1.05 | [0.88-1.24] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 2 | 165552167 | rs150990193 | T | C | rs150990193 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 169764368 | rs146779637 | C | T | rs146779637 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 170090014 | rs143413559 | T | C | rs143413559 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 170460536 | rs6708481 | A | C | rs6708481 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 2 | 172972971 | rs2016394 | G | A | rs2016394 | 23535729 | 1.00E-08 | NA | 1.05 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2016394-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 173925051 | rs10187560 | T | C | rs10187560 | pha002853 | 8.98E-05 | phs000147 | 1.45 | [1.22-1.72] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 2 | 174212894 | rs1550623 | G | A | rs1550623 | 23535729 | 3.00E-08 | NA | 1.06 | [1.03-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1550623-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 174939168 | rs6737629 | C | T | rs6737629 | 20852631 | 5.60E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 2 | 175265912 | rs6716400 | T | C | rs6716400 | 23555315 | 0.00018 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 176829117 | rs34897061 | G | C | rs34897061 | 23555315 | 0.00054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 179104298 | rs34479159 | T | C | rs34479159 | 22747683 | 6.00E-06 | NA | 0.09 | [0.050-0.128] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs34479159-C | NA | T | OSBPL6 |
| 2 | 181083696 | rs7580896 | A | G | rs7580896 | 22452962 | 1.30E-04 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | NA |
| 2 | 188332602 | rs113727256 | T | C | rs113727256 | 23555315 | 0.000011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 188332602 | rs113727256 | T | C | rs113727256 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 192830249 | rs11680872 | G | A | rs11680872 | 24080446 | 2.90E-05 | NA | 1.61 | [1.29-2.01] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 2 | 197576939 | rs80346810 | G | A | rs80346810 | 23555315 | 0.0009 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 204111603 | rs182035689 | C | A | rs182035689 | 23555315 | 0.00007 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 207172889 | rs146428765 | C | T | rs146428765 | 23555315 | 0.000087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 207173160 | rs144699200 | C | T | rs144699200 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 207983805 | rs10170608 | A | G | rs10170608 | 22232737 | 6.90E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 2 | 208773279 | rs200816436 | G | C | rs200816436 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 2 | 208842154 | rs71418661 | G | A | rs71418661 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 213296863 | rs13393577 | T | C | rs13393577 | 22452962 | 9.00E-14 | NA | 1.53 | [1.37-1.70] | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13393577-T | Research Support, Non-U.S. Gov't | T | ERBB4 |
| 2 | 216316487 | rs1250255 | C | T | rs1250255 | pha002853 | 3.21E-05 | phs000147 | 1.11 | [0.93-1.33] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 2 | 216892446 | rs4672790 | C | T | rs4672790 | 21060860 | 1.41E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 2 | 217905832 | rs13387042 | A | G | rs13387042 | 17529974 | 1.00E-13 | NA | 1.2 | [1.14-1.26] | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13387042-A | Research Support, Non-U.S. Gov't | Comparative Study | G |
| 2 | 217905832 | rs13387042 | A | G | rs13387042 | 19330030 | 2.00E-08 | NA | 1.25 | [1.15-1.37] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13387042-A | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | G |
| 2 | 217905832 | rs13387042 | A | G | rs13387042 | 20453838 | 2.00E-10 | NA | 1.21 | [1.14-1.29] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13387042-A | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 2 | 217905832 | rs13387042 | A | G | rs13387042 | 20872241 | 9.00E-06 | NA | 1.18 | [1.10-1.27] | 2,702 European ancestry women; 5,726 European ancestry controls | European(8428) | ALL(8428) | EUR(8428) | ALL(8428) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 217905832 | rs13387042 | A | G | rs13387042 | 21263130 | 2.00E-10 | NA | 1.16 | [1.11-1.22] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13387042-A | Research Support, Non-U.S. Gov't | Comparative Study |
| 2 | 217905832 | rs13387042 | A | G | rs13387042 | 23535729 | 2.00E-57 | NA | 1.14 | [1.11-1.16] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13387042-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 217938177 | rs13011060 | G | A | rs13011060 | pha002853 | 1.50E-04 | phs000147 | 1.37 | [1.15-1.64] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 2 | 218296508 | rs16857609 | C | T | rs16857609 | 23535729 | 1.00E-15 | NA | 1.08 | [1.06-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs16857609-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 218296508 | rs16857609 | C | T | rs16857609 | 23535733 | 1.00E-04 | NA | 1.07 | [1.04-1.11] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs16857609-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 220038094 | rs73074979 | G | A | rs73074979 | 23555315 | 0.000037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 220937247 | rs2911657 | A | G | rs2911657 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 2 | 221146465 | rs10804287 | G | A | rs10804287 | pha002853 | 3.64E-05 | phs000147 | 1.25 | [1.05-1.49] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 2 | 221186275 | rs897144 | C | A | rs897144 | pha002853 | 2.13E-04 | phs000147 | 1.22 | [1.03-1.45] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 2 | 230609149 | rs6707272 | C | T | rs6707272 | 23423446 | 4.95E-18 | NA | NA | NA | 731 European ancestry cases | European(731) | ALL(731) | EUR(731) | ALL(731) | Breast cancer (Postmenopausal women) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 230759699 | rs13014061 | C | A | rs13014061 | 23423446 | 1.70E-16 | NA | NA | NA | 731 European ancestry cases | European(731) | ALL(731) | EUR(731) | ALL(731) | Breast cancer (Postmenopausal women) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 230822296 | rs560304 | C | T | rs560304 | 23423446 | 5.66E-16 | NA | NA | NA | 731 European ancestry cases | European(731) | ALL(731) | EUR(731) | ALL(731) | Breast cancer (Postmenopausal women) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 240885050 | rs4854071 | C | T | rs4854071 | 20852631 | 5.67E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 2 | 240915307 | rs4149556 | C | T | rs4149556 | 20852631 | 9.75E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 2 | 240946766 | rs13848 | T | C | rs13848 | 20852631 | 6.30E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 2 | 240954110 | rs2289407 | A | G | rs2289407 | 20852631 | 9.78E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 2 | 241808308 | rs115014558 | C | A | rs115014558 | 23555315 | 0.00052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 242012729 | rs6721345 | G | A | rs6721345 | 22675492 | 3.00E-06 | NA | 1.13 | [NA] unit increase | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs6721345-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 2 | 242690675 | rs1106639 | G | A | rs1106639 | 23555315 | 0.00063 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 367705 | rs144055818 | A | G | rs144055818 | 23555315 | 0.000025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 1620644 | rs437161 | C | G | rs437161 | 22675492 | 7.90E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 1623393 | rs402675 | T | A | rs402675 | 22675492 | 6.00E-06 | NA | 0.1 | [NA] unit decrease | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs402675-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 3240356 | rs4109078 | T | C | rs4109078 | 23555315 | 0.00038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 4742276 | rs6762644 | A | G | rs6762644 | 23535729 | 2.00E-12 | NA | 1.07 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6762644-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 5464641 | rs2323142 | T | A | rs2323142 | 18463975 | 0.000123 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 3 | 7262014 | rs6797852 | G | A | rs6797852 | 23468962 | 3.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 3 | 9041094 | rs487865 | G | C | rs487865 | 22232737 | 7.00E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 3 | 11139579 | rs4684758 | G | A | rs4684758 | 18463975 | 0.00039 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 3 | 12857896 | rs200149446 | C | T | rs200149446 | 23555315 | 0.00004 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 3 | 14180693 | rs139590716 | G | C | rs139590716 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 14598965 | rs4449299 | C | A | rs4449299 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 3 | 14755667 | rs141714657 | G | C | rs141714657 | 23555315 | 0.0000093 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 14755667 | rs141714657 | G | C | rs141714657 | 23555315 | 0.00033 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 27186602 | rs1357245 | C | T | rs1357245 | 19330027 | 1.90E-07 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 27208975 | rs12487340 | C | T | rs12487340 | 24493630 | 3.88E-11 | NA | 1.17 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 3 | 27217080 | rs7653795 | G | A | rs7653795 | 24493630 | 8.96E-11 | NA | 1.17 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 3 | 27241219 | rs7634878 | G | A | rs7634878 | 24493630 | 1.13E-09 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 3 | 27241776 | rs10049490 | G | T | rs10049490 | 24493630 | 2.93E-10 | NA | 1.16 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 3 | 27253971 | rs1445111 | C | T | rs1445111 | 24493630 | 1.32E-10 | NA | 1.16 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 3 | 27257943 | rs11129270 | A | G | rs11129270 | 24493630 | 1.42E-10 | NA | 1.16 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NEK10 |
| 3 | 27260283 | rs2370946 | G | A | rs2370946 | 24493630 | 1.14E-10 | NA | 1.16 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NEK10 |
| 3 | 27273415 | rs2100006 | G | A | rs2100006 | 24493630 | 1.13E-11 | NA | 1.17 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NEK10 |
| 3 | 27292557 | rs2034190 | T | C | rs2034190 | 24493630 | 1.23E-11 | NA | 1.17 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NEK10 |
| 3 | 27330335 | rs487930 | C | A | rs487930 | 24493630 | 5.04E-12 | NA | 1.18 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NEK10 |
| 3 | 27343644 | rs653465 | C | T | rs653465 | 24493630 | 5.00E-12 | NA | 1.18 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NEK10 |
| 3 | 27353716 | rs552647 | C | A | rs552647 | 24493630 | 5.28E-12 | NA | 1.18 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NEK10 |
| 3 | 27416013 | rs4973768 | C | T | rs4973768 | 19330027 | 4.10E-23 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 27416013 | rs4973768 | C | T | rs4973768 | 20453838 | 6.00E-07 | NA | 1.16 | [1.10-1.24] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4973768-T | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 3 | 27416013 | rs4973768 | C | T | rs4973768 | 21263130 | 2.00E-08 | NA | 1.14 | [1.09-1.19] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4973768-C | Research Support, Non-U.S. Gov't | Comparative Study |
| 3 | 27416013 | rs4973768 | C | T | rs4973768 | 23535729 | 2.00E-30 | NA | 1.1 | [1.08-1.12] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4973768-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 3 | 27427225 | rs1472254 | A | G | rs1472254 | 24493630 | 5.76E-10 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | SLC4A7 |
| 3 | 29209151 | rs6549915 | T | C | rs6549915 | 22747683 | 9.00E-06 | NA | 0.08 | [0.043-0.113] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs6549915-T | NA | C | NA |
| 3 | 30682939 | rs12493607 | G | C | rs12493607 | 23535729 | 2.00E-08 | NA | 1.06 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs12493607-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 35536237 | rs7650296 | C | T | rs7650296 | 23555315 | 0.00052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 3 | 38355325 | rs116741759 | G | A | rs116741759 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 44635975 | rs149108320 | G | A | rs149108320 | 23555315 | 0.000014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 44943399 | rs142655195 | C | A | rs142655195 | 23555315 | 0.00077 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 46501168 | rs141854619 | A | T | rs141854619 | 23555315 | 0.0004 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 47047500 | rs181413143 | G | A | rs181413143 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 47447473 | rs138320436 | C | A | rs138320436 | 23555315 | 0.00021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 48637143 | rs139999010 | C | T | rs139999010 | 23555315 | 0.00054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 50006026 | rs148635727 | G | A | rs148635727 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 52409393 | rs149319231 | A | C | rs149319231 | 23555315 | 0.00001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 58116540 | rs200297468 | G | C | rs200297468 | 23555315 | 0.000061 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 3 | 60763256 | rs11919041 | G | T | rs11919041 | 22747683 | 2.00E-06 | NA | 0.08 | [0.049-0.115] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs11919041-T | NA | G | FHIT |
| 3 | 61413814 | rs10514718 | C | G | rs10514718 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 62733366 | rs580384 | C | T | rs580384 | 22747683 | 4.00E-06 | NA | 0.12 | [0.071-0.177] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs580384-C | NA | C | CADPS |
| 3 | 63378419 | rs17313993 | T | C | rs17313993 | 20852631 | 2.76E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 3 | 63645410 | rs73111385 | A | G | rs73111385 | 23555315 | 0.000016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 70037117 | rs9863457 | G | C | rs9863457 | 18463975 | 0.000441 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 3 | 76484183 | rs3849491 | T | C | rs3849491 | 22675492 | 6.00E-06 | NA | 0.07 | [NA] unit decrease | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs3849491-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 101476645 | rs145072852 | C | T | rs145072852 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 101476645 | rs145072852 | C | T | rs145072852 | 23555315 | 0.00075 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 102157365 | rs6784362 | A | T | rs6784362 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 102157417 | rs6784389 | A | G | rs6784389 | 23555315 | 0.000019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 102181131 | rs12054046 | A | G | rs12054046 | 23555315 | 0.000032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 102938744 | rs13071097 | A | C | rs13071097 | 21060860 | 3.94E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 111923150 | rs201680751 | T | C | rs201680751 | 23555315 | 0.000087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 3 | 115100216 | rs9879234 | C | T | rs9879234 | 21060860 | 2.12E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 3 | 117740707 | rs817515 | G | A | rs817515 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 119261375 | rs7648642 | A | C | rs7648642 | 24080446 | 5.00E-06 | NA | 1.56 | [1.28-1.89] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 3 | 122792686 | rs13434289 | G | T | rs13434289 | 18463975 | 0.000327 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 3 | 124377196 | rs10804562 | G | A | rs10804562 | 21060860 | 2.16E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 126942965 | rs13095826 | T | G | rs13095826 | 24025145 | 4.49E-06 | Dominant | 2.91 | [1.57-5.36] | 62 Japanese ancestry cases; 42 Japanese ancestry controls | Japanese(104) | ALL(104) | ASN(104) | ALL(104) | Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs13095826-G | Research Support, Non-U.S. Gov't | T | NA |
| 3 | 126950126 | rs4234284 | G | A | rs4234284 | 24025145 | 3.00E-06 | Dominant | 3.01 | [1.62-5.60] | 62 Japanese ancestry cases; 42 Japanese ancestry controls | Japanese(104) | ALL(104) | ASN(104) | ALL(104) | Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4234284-T | Research Support, Non-U.S. Gov't | A | NA |
| 3 | 128092102 | rs1735538 | A | G | rs1735538 | 22232737 | 1.50E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 3 | 148575278 | rs149931188 | C | T | rs149931188 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 150467808 | rs6788895 | G | T | rs6788895 | 22951594 | 9.00E-08 | NA | 1.22 | [1.13-1.31] | 1,086 Japanese ancestry cases; 1,816 Japanese ancestry controls | Japanese(2902) | ALL(2902) | ASN(2902) | ALL(2902) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6788895-G | Research Support, Non-U.S. Gov't | Comparative Study | T |
| 3 | 157081214 | rs73873651 | C | T | rs73873651 | 23555315 | 0.00038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 161389636 | rs908351 | C | T | rs908351 | 21060860 | 5.20E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 172232682 | rs143353036 | A | G | rs143353036 | 23555315 | 0.000034 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 172232682 | rs143353036 | A | G | rs143353036 | 23555315 | 0.00008 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 172661239 | rs1353868 | G | T | rs1353868 | 24325915 | 2.60E-05 | NA | 1.17 | [1.09-1.25] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs1353868-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 172835082 | rs16846616 | C | T | rs16846616 | 23555315 | 0.000011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 177337534 | rs16828300 | G | A | rs16828300 | 18463975 | 0.000489 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 3 | 179039751 | rs3806685 | A | G | rs3806685 | 22452962 | 2.40E-06 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | NA |
| 3 | 180321090 | rs145653627 | T | G | rs145653627 | 23555315 | 0.00043 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 3 | 181851284 | rs16832889 | A | C | rs16832889 | 23518928 | 1.00E-06 | NA | 3.09 | [1.965-4.844] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 3 | 183508590 | rs79808533 | A | G | rs79808533 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 183508714 | rs74496163 | G | A | rs74496163 | 23555315 | 0.000087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 3 | 183957291 | rs199885492 | G | A | rs199885492 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 3 | 188518434 | rs12487595 | A | C | rs12487595 | 22452962 | 8.80E-06 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | LPP |
| 3 | 189645933 | rs710521 | T | C | rs710521 | 23555315 | 0.00016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 191966701 | rs940901 | C | T | rs940901 | 18463975 | 0.00048 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 3 | 193332564 | rs145565705 | C | G | rs145565705 | 23555315 | 0.000045 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 3 | 193722330 | rs724767 | C | T | rs724767 | 23518928 | 2.00E-06 | NA | 1.44 | [1.241-1.663] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 4 | 946974 | rs2290405 | G | A | rs2290405 | pha002853 | 1.78E-04 | phs000147 | 1.18 | [0.98-1.41] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | TMEM175 | intron | NM_032326 |
| 4 | 1725159 | rs145470576 | A | G | rs145470576 | 23555315 | 0.00073 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 4 | 2195009 | rs11725880 | G | A | rs11725880 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 2210057 | rs202206471 | T | G | rs202206471 | 23555315 | 0.00058 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 4 | 3768805 | rs202121184 | G | A | rs202121184 | 23555315 | 0.00038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 4 | 10022947 | rs144053854 | C | T | rs144053854 | 23555315 | 0.00002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 10527472 | rs189581402 | T | C | rs189581402 | 23555315 | 0.0000044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 4 | 12691840 | rs2222309 | T | C | rs2222309 | 21060860 | 5.30E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 17244396 | rs76489600 | C | A | rs76489600 | 24143190 | 7.76E-04 | NA | 1.25 | [1.10-1.43] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs76489600-C | Research Support, Non-U.S. Gov't | C | NA |
| 4 | 18866169 | rs6845621 | G | A | rs6845621 | 24025145 | 2.00E-06 | Allelic | 5.53 | [2.61-11.70] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs6845621-C | Research Support, Non-U.S. Gov't | A | NA |
| 4 | 37349340 | rs12505080 | T | C | rs12505080 | 17529973 | 8.10E-06 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | T |
| 4 | 37349340 | rs12505080 | T | C | rs12505080 | pha002853 | 7.99E-06 | phs000147 | 1.21 | [1.02-1.44] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | KIAA1239 | intron | NM_001144990 |
| 4 | 37530090 | rs6830100 | G | A | rs6830100 | pha002853 | 1.86E-04 | phs000147 | 1.54 | [1.25-1.89] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | C4orf19 | intron | NM_001104629 |
| 4 | 38820986 | rs7696175 | T | C | rs7696175 | 17529973 | 1.00E-05 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 4 | 38820986 | rs7696175 | T | C | rs7696175 | pha002853 | 1.41E-05 | phs000147 | 1.38 | [1.15-1.67] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 4 | 38930893 | rs2306923 | G | A | rs2306923 | 23555315 | 0.00061 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 42902734 | rs10517055 | A | G | rs10517055 | 22452962 | 1.80E-06 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | GRXCR1 |
| 4 | 48619937 | rs6843340 | C | T | rs6843340 | 17529967 | 9.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | FRYL |
| 4 | 55643116 | rs11732323 | G | A | rs11732323 | pha002853 | 5.78E-05 | phs000147 | 1.39 | [1.15-1.67] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 4 | 58970405 | rs6554509 | A | G | rs6554509 | 20852631 | 3.13E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 4 | 69591782 | rs293428 | A | G | rs293428 | 22829776 | 3.00E-08 | Men | 0.03 | [0.019-0.039] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs293428-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 4 | 69591782 | rs293428 | A | G | rs293428 | 22829776 | 6.00E-06 | Men + Women | 0.02 | [0.011-0.027] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs293428-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 4 | 70505162 | rs28404221 | G | A | rs28404221 | 23555315 | 0.000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 75502487 | rs62314947 | T | C | rs62314947 | 22747683 | 5.00E-08 | NA | 0.1 | [0.064-0.138] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs62314947-T | NA | C | NA |
| 4 | 77125878 | rs6532244 | C | A | rs6532244 | pha002853 | 2.09E-04 | phs000147 | 1.32 | [1.10-1.56] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | SCARB2 | intron | NM_005506 |
| 4 | 81188221 | rs112475347 | G | T | rs112475347 | 23555315 | 0.000024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 84227441 | rs150258114 | C | T | rs150258114 | 23555315 | 0.000023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 87653856 | rs61757790 | G | C,T | rs61757790 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 88534411 | rs201110163 | G | A | rs201110163 | 23555315 | 0.0000093 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 4 | 88534411 | rs201110163 | G | A | rs201110163 | 23555315 | 0.000054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 4 | 90473540 | rs1552972 | A | G | rs1552972 | 18463975 | 0.0000731 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 4 | 90880403 | rs12233759 | G | A | rs12233759 | pha002853 | 8.45E-05 | phs000147 | 1.46 | [1.22-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 4 | 93918873 | rs17262792 | T | C | rs17262792 | 20852631 | 3.98E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 4 | 95613175 | rs17339671 | A | G | rs17339671 | 23518928 | 1.14E-06 | NA | 1.47 | [1.259-1.709] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 4 | 95615769 | rs4699587 | A | G | rs4699587 | 23518928 | 5.00E-07 | NA | 1.76 | [1.416-2.194] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 4 | 95750839 | rs6831418 | T | C | rs6831418 | pha002853 | 1.50E-04 | phs000147 | 1.14 | [0.95-1.37] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | BMPR1B | intron | NM_001203 |
| 4 | 95775322 | rs4538488 | G | T | rs4538488 | pha002853 | 1.39E-04 | phs000147 | 1.15 | [0.95-1.39] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | BMPR1B | intron | NM_001203 |
| 4 | 95775606 | rs4254781 | T | C | rs4254781 | pha002853 | 1.91E-04 | phs000147 | 1.15 | [0.95-1.39] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | BMPR1B | intron | NM_001203 |
| 4 | 96076813 | rs11097457 | A | G | rs11097457 | pha002853 | 1.97E-04 | phs000147 | 1.37 | [1.14-1.64] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | BMPR1B | UTR-3 | NM_001203 |
| 4 | 100789312 | rs191421902 | G | A | rs191421902 | 23555315 | 0.0004 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 106084778 | rs9790517 | C | T | rs9790517 | 23535729 | 4.00E-08 | NA | 1.05 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs9790517-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 108948869 | rs76476980 | G | A,T | rs76476980 | 23555315 | 0.000095 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 110384078 | rs189098852 | A | C | rs189098852 | 23555315 | 0.000034 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 4 | 110940045 | rs4698804 | T | C | rs4698804 | 23555315 | 0.000098 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 4 | 113352745 | rs35519493 | G | A | rs35519493 | 23555315 | 0.00023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 121746232 | rs2597540 | T | C | rs2597540 | 22452962 | 4.10E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | PRDM5 |
| 4 | 122106293 | rs17051310 | G | A | rs17051310 | 23468962 | 2.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 4 | 122110975 | rs921551 | T | C | rs921551 | 23468962 | 2.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 4 | 122121494 | rs17435444 | A | G | rs17435444 | 23468962 | 3.00E-07 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 4 | 126373018 | rs111423173 | C | T | rs111423173 | 23555315 | 0.00038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 126373835 | rs150894545 | C | T | rs150894545 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 138416511 | rs9761827 | G | A | rs9761827 | 24325915 | 1.10E-05 | NA | 1.17 | [1.09-1.26] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs9761827-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 4 | 147317302 | rs17021447 | T | C | rs17021447 | 18463975 | 0.0000388 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 4 | 148675193 | rs13124167 | T | C | rs13124167 | 20332263 | 2.28E-07 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 149337408 | rs16998733 | T | C | rs16998733 | 17529967 | 2.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NR3C2 |
| 4 | 152890563 | rs361147 | G | T | rs361147 | 21062454 | 3.13E-13 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 4 | 169299528 | rs13110927 | T | C | rs13110927 | 17529967 | 3.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | DDX60L |
| 4 | 169300938 | rs61740720 | C | T | rs61740720 | 23555315 | 0.00016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 169343044 | rs61740705 | A | G | rs61740705 | 23555315 | 0.00023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 4 | 175846426 | rs6828523 | C | A | rs6828523 | 23535729 | 4.00E-16 | NA | 1.11 | [1.09-1.15] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6828523-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 180383312 | rs2716816 | C | T | rs2716816 | 22747683 | 7.00E-06 | NA | 0.1 | [0.055-0.141] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs2716816-C | NA | C | NA |
| 4 | 181825319 | rs17070289 | T | G | rs17070289 | 21060860 | 1.41E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 4 | 181863910 | rs6821660 | C | A | rs6821660 | 21060860 | 1.46E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 4 | 190641170 | rs11132733 | T | C | rs11132733 | 22675492 | 3.00E-06 | NA | 0.23 | [NA] unit decrease | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs11132733-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 428070 | rs201183475 | C | T | rs201183475 | 23555315 | 0.00025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 5 | 1085534 | rs143024441 | C | A | rs143024441 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 1279790 | rs10069690 | C | T | rs10069690 | 22037553 | 1.00E-10 | NA | 1.18 | [1.13-1.25] | 1,004 African ancestry cases; 2,745 African ancestry controls; 1,718 European ancestry cases; 3,670 European ancestry controls | African(3749) | European(5388) | ALL(9137) | AFR(3749) | EUR(5388) | ALL(9137) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10069690-T | Research Support, N.I.H., Extramural |
| 5 | 1279790 | rs10069690 | C | T | rs10069690 | 23535729 | 7.00E-09 | NA | 1.06 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10069690-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 1279790 | rs10069690 | C | T | rs10069690 | 23535733 | 5.00E-12 | NA | 1.15 | [1.11-1.20] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10069690-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 1279790 | rs10069690 | C | T | rs10069690 | 24325915 | 1.00E-07 | NA | 1.24 | [1.14-1.34] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10069690-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 1297488 | rs2736108 | C | T | rs2736108 | 24325915 | 8.33E-06 | NA | 1.3 | [1.15-1.45] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 5320256 | rs3806872 | C | A | rs3806872 | 23468962 | 3.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 5 | 10467702 | rs1092913 | G | A | rs1092913 | 21424380 | 2.00E-06 | NA | 1.45 | [1.24-1.69] | 302 European ancestry cases; 321 European ancestry controls | European(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1092913-T | Research Support, Non-U.S. Gov't | Comparative Study | G |
| 5 | 13901641 | rs35090077 | A | C | rs35090077 | 23555315 | 0.00006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 13901641 | rs35090077 | A | C | rs35090077 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 14072057 | rs163818 | T | C | rs163818 | 24025145 | 6.00E-07 | Dominant | 11.5 | [3.37-39.30] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs163818-C | Research Support, Non-U.S. Gov't | C | NA |
| 5 | 16524541 | rs1240951 | A | G | rs1240951 | 21060860 | 9.01E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 19440168 | rs349475 | T | C | rs349475 | 23555315 | 0.00043 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 5 | 25902342 | rs10038113 | T | C | rs10038113 | 23555315 | 0.000059 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 28730106 | rs2433288 | C | G | rs2433288 | 21060860 | 5.60E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 28754303 | rs1345787 | C | T | rs1345787 | 21060860 | 1.66E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 29246809 | rs4331913 | C | T | rs4331913 | 17529967 | 3.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 5 | 35065328 | rs146459777 | C | G | rs146459777 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 35883804 | rs2194225 | T | C | rs2194225 | pha002853 | 6.57E-05 | phs000147 | 1.51 | [1.25-1.81] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 5 | 40831808 | rs2291782 | G | A | rs2291782 | 18463975 | 0.000366 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 44662515 | rs4415084 | C | T | rs4415084 | 21263130 | 8.00E-11 | NA | 1.17 | [1.11-1.22] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4415084-T | Research Support, Non-U.S. Gov't | Comparative Study |
| 5 | 44706498 | rs10941679 | A | G | rs10941679 | 23535729 | 2.00E-37 | NA | 1.13 | [1.10-1.15] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10941679-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 5 | 44875005 | rs7716600 | A | C | rs7716600 | 20872241 | 7.00E-07 | NA | 1.24 | [1.14-1.34] | 2,702 European ancestry women; 5,726 European ancestry controls | European(8428) | ALL(8428) | EUR(8428) | ALL(8428) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs7716600-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 44875005 | rs7716600 | A | C | rs7716600 | 23555315 | 0.000063 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 44914579 | rs7703618 | G | A | rs7703618 | 17529974 | 5.30E-07 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | G |
| 5 | 45266589 | rs4866929 | A | G | rs4866929 | pha002853 | 7.17E-05 | phs000147 | 1.27 | [1.04-1.52] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | HCN1 | intron | NM_021072 |
| 5 | 45285718 | rs981782 | A | C | rs981782 | 17529967 | 9.00E-06 | 1.04 | [1.01-1.08] | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs981782-C | Research Support, Non-U.S. Gov't | T | HCN1 | |
| 5 | 50812738 | rs10052591 | T | C | rs10052591 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 55706122 | rs286003 | C | G | rs286003 | 18463975 | 0.000377 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 55983856 | rs16886034 | T | A,C,G | rs16886034 | 24493630 | 2.00E-09 | NA | 1.36 | [1.23-1.51] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 5 | 55995035 | rs16886113 | T | G | rs16886113 | 24493630 | 4.00E-11 | NA | 1.35 | [1.23-1.47] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 5 | 56009012 | rs6862199 | T | C | rs6862199 | 24493630 | 1.43E-08 | NA | 1.14 | [1.09-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 5 | 56012880 | rs10940511 | T | C | rs10940511 | 24493630 | 4.85E-09 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 5 | 56023083 | rs16886165 | T | G | rs16886165 | 19330030 | 5.00E-07 | NA | 1.23 | [1.12-1.35] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs16886165-G | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | G |
| 5 | 56029243 | rs16886181 | T | C | rs16886181 | 24493630 | 9.00E-14 | NA | 1.26 | [1.18-1.34] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 5 | 56031884 | rs889312 | C | A | rs889312 | 17529967 | 7.00E-20 | NA | 1.13 | [1.10-1.16] | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs889312-A | Research Support, Non-U.S. Gov't | A | NA |
| 5 | 56031884 | rs889312 | C | A | rs889312 | 20453838 | 5.00E-09 | NA | 1.22 | [1.14-1.30] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs889312-C | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 5 | 56031884 | rs889312 | C | A | rs889312 | 23535729 | 3.00E-36 | NA | 1.12 | [1.10-1.15] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs889312-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 5 | 56031884 | rs889312 | C | A | rs889312 | 24493630 | 1.00E-08 | NA | 1.29 | NA | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 56041064 | rs961847 | C | T | rs961847 | 24493630 | 1.04E-13 | NA | 1.21 | [1.15-1.27] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 5 | 56044186 | rs4700008 | A | G | rs4700008 | 24493630 | 8.65E-09 | NA | 1.15 | [1.10-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 56060954 | rs112497245 | G | A | rs112497245 | 24143190 | 6.17E-05 | NA | 1.16 | [1.08-1.25] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs112497245-A | Research Support, Non-U.S. Gov't | G | NA |
| 5 | 56109154 | rs11960484 | A | G | rs11960484 | 24493630 | 1.08E-12 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | MAP3K1 |
| 5 | 56113850 | rs832552 | G | T | rs832552 | 24493630 | 1.11E-12 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | MAP3K1 |
| 5 | 56114526 | rs702691 | T | G | rs702691 | 24493630 | 8.67E-13 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | MAP3K1 |
| 5 | 56118875 | rs252905 | G | A | rs252905 | 24493630 | 9.22E-13 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | MAP3K1 |
| 5 | 56119190 | rs252906 | C | A | rs252906 | 24493630 | 1.07E-12 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | MAP3K1 |
| 5 | 56122344 | rs16886364 | A | G | rs16886364 | 24493630 | 5.00E-12 | NA | 1.36 | [1.25-1.48] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | MAP3K1 |
| 5 | 56125904 | rs832585 | T | C | rs832585 | 24493630 | 1.04E-12 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | MAP3K1 |
| 5 | 56134276 | rs16886397 | A | G | rs16886397 | 24493630 | 4.00E-12 | NA | 1.36 | [1.25-1.49] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | MAP3K1 |
| 5 | 56151744 | rs832566 | G | A | rs832566 | 24493630 | 1.06E-12 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | MAP3K1 |
| 5 | 56153392 | rs1017226 | T | C | rs1017226 | 24493630 | 6.00E-11 | NA | 1.33 | [1.22-1.45] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | MAP3K1 |
| 5 | 56163787 | rs832577 | G | A | rs832577 | 24493630 | 1.82E-12 | NA | 1.19 | [1.13-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | MAP3K1 |
| 5 | 56168712 | rs2229882 | C | T | rs2229882 | 24493630 | 1.00E-14 | NA | 1.45 | [1.32-1.60] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | MAP3K1 |
| 5 | 56168712 | rs2229882 | C | T | rs2229882 | 24493630 | 1.02E-14 | NA | 1.45 | [1.32-1.60] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | MAP3K1 |
| 5 | 56170813 | rs16886448 | C | G | rs16886448 | 24493630 | 2.00E-12 | NA | 1.37 | [1.25-1.49] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | MAP3K1 |
| 5 | 56178111 | rs3822625 | A | G | rs3822625 | 24493630 | 5.00E-12 | NA | 1.36 | [1.24-1.48] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | MAP3K1 |
| 5 | 56195790 | rs12655019 | A | G | rs12655019 | 24493630 | 3.00E-10 | NA | 1.27 | [1.18-1.37] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 56195846 | rs252913 | A | G | rs252913 | 24493630 | 4.66E-13 | NA | 1.2 | [1.14-1.26] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 5 | 56199202 | rs832540 | G | A | rs832540 | 24493630 | 8.38E-13 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 5 | 56203773 | rs252925 | G | A | rs252925 | 24493630 | 1.16E-12 | NA | 1.19 | [1.14-1.25] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 5 | 56226410 | rs252890 | T | C | rs252890 | 24493630 | 1.81E-10 | NA | 1.17 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | MIER3 |
| 5 | 56229288 | rs832529 | C | T | rs832529 | 24493630 | 1.64E-10 | NA | 1.17 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | MIER3 |
| 5 | 56235548 | rs1445996 | C | T | rs1445996 | 24493630 | 1.60E-10 | NA | 1.17 | [1.12-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | MIER3 |
| 5 | 56249842 | rs331498 | C | G | rs331498 | 24493630 | 6.35E-10 | NA | 1.17 | [1.11-1.23] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 5 | 56251660 | rs331497 | G | T | rs331497 | 24493630 | 1.23E-09 | NA | 1.16 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 5 | 56256483 | rs7726354 | C | T | rs7726354 | 24493630 | 7.00E-11 | NA | 1.37 | [1.24-1.50] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 5 | 56257515 | rs2662024 | T | C | rs2662024 | 24493630 | 1.65E-09 | NA | 1.16 | [1.11-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 5 | 56260363 | rs10039338 | A | G | rs10039338 | 24493630 | 3.96E-08 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 56260606 | rs6890270 | A | G | rs6890270 | 24493630 | 1.47E-12 | NA | 1.24 | [1.17-1.31] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 56270794 | rs10940518 | C | T | rs10940518 | 24493630 | 3.55E-08 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 5 | 58184061 | rs10472076 | T | C | rs10472076 | 23535729 | 3.00E-08 | NA | 1.05 | [1.03-1.07] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10472076-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 58337481 | rs1353747 | T | G | rs1353747 | 23535729 | 3.00E-08 | NA | 1.09 | [1.05-1.12] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1353747-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 65350441 | rs201995478 | A | G | rs201995478 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 5 | 65350441 | rs201995478 | A | G | rs201995478 | 23555315 | 0.00058 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 5 | 72419402 | rs149174030 | G | A,C | rs149174030 | 23555315 | 0.00083 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 74620912 | rs6878576 | C | T | rs6878576 | 21060860 | 1.17E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 79809558 | rs148781457 | G | T | rs148781457 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 86174147 | rs1493354 | A | G | rs1493354 | 24025145 | 9.00E-06 | Dominant | 2.37 | [1.56-3.60] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs1493354-T | Research Support, Non-U.S. Gov't | A | NA |
| 5 | 86177773 | rs2471042 | A | G | rs2471042 | 24025145 | 5.00E-06 | Dominant | 2.51 | [1.64-3.81] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs2471042-T | Research Support, Non-U.S. Gov't | G | NA |
| 5 | 86179008 | rs13161175 | A | C | rs13161175 | 24025145 | 8.53E-06 | Dominant | 2.44 | [1.60-3.71] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs13161175-A | Research Support, Non-U.S. Gov't | A | NA |
| 5 | 89109750 | rs10514317 | C | T | rs10514317 | 22675492 | 7.00E-07 | NA | 0.13 | [NA] unit decrease | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs10514317-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 91275313 | rs421379 | T | C | rs421379 | 23319801 | 1.00E-06 | NA | 1.61 | [1.33-1.96] | 536 early-onset cases | NOPOP(536) | ALL(536) | NOPOP(536) | ALL(536) | Breast cancer (prognosis) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 5 | 95112866 | rs3777218 | T | C | rs3777218 | 21062454 | 3.32E-05 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 5 | 97076548 | rs10515260 | T | C | rs10515260 | 23518928 | 6.00E-07 | NA | 1.91 | [1.485-2.463] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 5 | 109159494 | rs112884546 | T | A | rs112884546 | 23555315 | 0.000064 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 109190943 | rs112984105 | C | T | rs112984105 | 23555315 | 0.000064 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 109391230 | rs1378506 | G | A | rs1378506 | 19330027 | 1.40E-04 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 5 | 118324108 | rs201681130 | C | G | rs201681130 | 23555315 | 0.000011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 5 | 118951870 | rs328661 | C | T | rs328661 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 118969960 | rs328694 | C | T | rs328694 | 23555315 | 0.000093 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 122503488 | rs10071061 | T | C | rs10071061 | 18463975 | 0.000221 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 128302185 | rs142676290 | G | A | rs142676290 | 23555315 | 0.000037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 128302185 | rs142676290 | G | A | rs142676290 | 23555315 | 0.000059 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 136715749 | rs1229742 | A | G | rs1229742 | pha002853 | 1.85E-04 | phs000147 | 1.43 | [1.20-1.70] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | SPOCK1 | intron | NM_004598 |
| 5 | 136726751 | rs2005698 | C | A | rs2005698 | pha002853 | 1.71E-04 | phs000147 | 1.43 | [1.20-1.70] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | SPOCK1 | intron | NM_004598 |
| 5 | 141029036 | rs116801073 | G | A | rs116801073 | 23555315 | 0.000037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 146275313 | rs319175 | C | G | rs319175 | 18463975 | 0.000437 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 146284693 | rs563943 | C | T | rs563943 | 18463975 | 0.000437 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 146307423 | rs319138 | G | A | rs319138 | 18463975 | 0.000287 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 147505341 | rs201942775 | G | A | rs201942775 | 23555315 | 0.00000016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 5 | 149096383 | rs4705079 | C | T | rs4705079 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 5 | 149359991 | rs104893915 | C | T | rs104893915 | 23555315 | 0.0006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 149755362 | rs75583421 | G | A | rs75583421 | 23555315 | 0.000076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 151784533 | rs139903210 | C | A | rs139903210 | 23555315 | 0.000042 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 158244083 | rs1432679 | C | T | rs1432679 | 23535729 | 2.00E-14 | NA | 1.07 | [1.05-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1432679-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 158244083 | rs1432679 | C | T | rs1432679 | 23535733 | 7.00E-06 | NA | 1.08 | [1.04-1.11] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1432679-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 160042905 | rs150012142 | T | C | rs150012142 | 23555315 | 0.0000036 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 5 | 160318988 | rs12658840 | A | G | rs12658840 | 17529967 | 5.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | NA |
| 5 | 163889280 | rs6556756 | G | T | rs6556756 | 17903305 | 5.00E-07 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | T | LOC100507193 |
| 5 | 173713787 | rs11952522 | C | T | rs11952522 | 18463975 | 0.0000396 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 174594583 | rs10213884 | T | C | rs10213884 | 18463975 | 0.000279 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 5 | 175793395 | rs150819260 | G | A | rs150819260 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 176013823 | rs116138699 | C | T | rs116138699 | 23555315 | 0.00008 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 5 | 179285781 | rs199537217 | G | A | rs199537217 | 23555315 | 0.0000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 5 | 180692321 | rs888708 | T | A | rs888708 | 21060860 | 2.72E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 1318878 | rs11242675 | C | T | rs11242675 | 23535729 | 7.00E-09 | NA | 1.06 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11242675-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 4469641 | rs1265273 | G | A | rs1265273 | 20852631 | 2.30E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 6 | 6266854 | rs140712764 | C | T | rs140712764 | 23555315 | 0.000068 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 13722523 | rs204247 | G | A | rs204247 | 23535729 | 8.00E-09 | NA | 1.05 | [1.03-1.07] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs204247-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 18139201 | rs112339338 | G | A | rs112339338 | 23555315 | 0.000051 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 19443935 | rs16882214 | C | G | rs16882214 | 23354978 | 2.00E-06 | Meta P value | 1.43 | NA | 477 Ashkenazi Jewish cases; 524 Ashkenazi Jewish controls | Ashkenazi Jewish(1001) | ALL(1001) | MEA(1001) | ALL(1001) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA |
| 6 | 20156174 | rs1202199 | T | C | rs1202199 | 23555315 | 0.00077 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 24094140 | rs2176933 | A | G | rs2176933 | pha002853 | 2.09E-04 | phs000147 | NA | NA | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 6 | 27279805 | rs61736098 | G | T | rs61736098 | 23555315 | 0.0002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 27293107 | rs61746402 | G | A | rs61746402 | 23555315 | 0.000092 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 27293114 | rs61743950 | T | A | rs61743950 | 23555315 | 0.000092 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 27293272 | rs200789956 | G | A | rs200789956 | 23555315 | 0.0000017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 6 | 28540989 | rs138676911 | T | G | rs138676911 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 28754520 | rs9257181 | C | T | rs9257181 | 24325915 | 4.90E-05 | NA | 1.17 | [1.08-1.26] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs9257181-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 29755451 | rs2743941 | T | C | rs2743941 | 23555315 | 0.000068 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 30758466 | rs3131043 | A | G | rs3131043 | pha002853 | 1.76E-04 | phs000147 | 1.33 | [1.10-1.59] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 6 | 30838688 | rs2844654 | T | G | rs2844654 | 23555315 | 0.00084 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 30875899 | rs1264309 | A | G | rs1264309 | 23555315 | 0.00072 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 30882513 | rs1264303 | A | G | rs1264303 | 23555315 | 0.00075 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 30887344 | rs7738138 | T | C | rs7738138 | 23555315 | 0.00072 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 30892377 | rs2252760 | G | C | rs2252760 | 23555315 | 0.00075 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 30897774 | rs2532929 | A | G | rs2532929 | 23555315 | 0.00081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 31058340 | rs3130544 | C | A | rs3130544 | pha002853 | 1.62E-04 | phs000147 | 1.11 | [0.91-1.37] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 6 | 31107087 | rs3094663 | T | C | rs3094663 | 20332263 | 1.10E-05 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 31882024 | rs2844452 | A | G | rs2844452 | 23555315 | 0.00041 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 31893944 | rs2734335 | G | A | rs2734335 | 23555315 | 0.00045 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 31894626 | rs3020644 | A | G | rs3020644 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 31895973 | rs7746553 | C | G | rs7746553 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 31895973 | rs7746553 | C | G | rs7746553 | 23555315 | 0.00084 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 31918154 | rs149101394 | A | G | rs149101394 | 23555315 | 0.0000035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 31918154 | rs149101394 | A | G | rs149101394 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 31920873 | rs4151664 | C | T | rs4151664 | 23555315 | 0.00084 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 32015775 | rs140530599 | G | A | rs140530599 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 32074804 | rs12153855 | T | C | rs12153855 | 21245432 | 0.0002 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 6 | 32388308 | rs2395167 | C | T | rs2395167 | 18463975 | 0.000404 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 6 | 32948385 | rs144861747 | G | A | rs144861747 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 32948385 | rs144861747 | G | A | rs144861747 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 34512195 | rs2233637 | G | C | rs2233637 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 35090279 | rs2057537 | G | A | rs2057537 | 21060860 | 2.19E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 36297893 | rs41272160 | C | T | rs41272160 | 23555315 | 0.000071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 36853543 | rs9380618 | A | G | rs9380618 | 21060860 | 2.01E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 36867372 | rs140986907 | C | A | rs140986907 | 23555315 | 0.00052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 38854645 | rs116401640 | A | G | rs116401640 | 23555315 | 0.00069 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 39239122 | rs2758862 | C | T | rs2758862 | 22452962 | 1.10E-04 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 6 | 44274257 | rs139372744 | G | A | rs139372744 | 23555315 | 0.0000042 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 46144252 | rs2799359 | G | T | rs2799359 | 21060860 | 1.51E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 46996760 | rs143669522 | G | A | rs143669522 | 23555315 | 0.000038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 66168229 | rs12208109 | A | G | rs12208109 | 18463975 | 0.0000207 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 6 | 75994198 | rs151068918 | T | C | rs151068918 | 23555315 | 0.0000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 82193109 | rs17530068 | T | C | rs17530068 | 22976474 | 3.00E-07 | NA | 1.16 | [1.10-1.23] | 3,666 European ancestry cases; 28,864 European ancestry controls; 1,004 African American cases; 2,744 African American controls | African American(3748) | European(32530) | ALL(36278) | AFR(3748) | EUR(32530) | ALL(36278) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17530068-C | Research Support, N.I.H., Extramural |
| 6 | 82193109 | rs17530068 | T | C | rs17530068 | 23535729 | 8.00E-09 | NA | 1.05 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17530068-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 82193109 | rs17530068 | T | C | rs17530068 | 23535733 | 3.00E-06 | NA | 1.09 | [1.05-1.13] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17530068-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 82522971 | rs999567 | T | C | rs999567 | 24143190 | 2.49E-05 | NA | 1.16 | [1.08-1.25] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs999567-C | Research Support, Non-U.S. Gov't | T | NA |
| 6 | 87124569 | rs3857481 | G | A | rs3857481 | 17529967 | 5.00E-07 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | NA |
| 6 | 93605453 | rs2066012 | A | G | rs2066012 | 18463975 | 0.000243 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 6 | 96417975 | rs632630 | T | G | rs632630 | 22675492 | 8.80E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 96418654 | rs477272 | A | G | rs477272 | 22675492 | 8.90E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 111983818 | rs9320374 | A | G | rs9320374 | 22452962 | 2.90E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | FYN |
| 6 | 118541407 | rs7768436 | T | C | rs7768436 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 6 | 118546256 | rs2184365 | G | A | rs2184365 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 6 | 119297143 | rs41292558 | T | A | rs41292558 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 119399385 | rs192266016 | G | T | rs192266016 | 23555315 | 0.000062 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 119399385 | rs192266016 | G | T | rs192266016 | 23555315 | 0.000089 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 120312329 | rs9320730 | G | T | rs9320730 | pha002853 | 2.19E-04 | phs000147 | 1.43 | [1.20-1.69] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 6 | 123673686 | rs200243235 | T | C | rs200243235 | 23555315 | 0.000026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 6 | 124977655 | rs781484 | G | A | rs781484 | pha002853 | 1.83E-04 | phs000147 | 1.33 | [1.09-1.64] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NKAIN2 | intron | NM_001040214 |
| 6 | 126329589 | rs146575767 | A | G | rs146575767 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 127600630 | rs2180341 | G | A | rs2180341 | 18326623 | 3.00E-08 | 1.41 | [1.25-1.59] | 249 Ashkenazi Jewish ancestry non-BRCA1/2 carriers cases; 299 Ashkenazi Jewish ancestry non-BRCA1/2 carriers controls | Ashkenazi Jewish(548) | ALL(548) | MEA(548) | ALL(548) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2180341-G | NA | A | RNF146 | |
| 6 | 134308216 | rs117173630 | C | G | rs117173630 | 23555315 | 0.000094 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 143729447 | rs2496585 | C | A | rs2496585 | pha002853 | 1.21E-04 | phs000147 | 1.44 | [1.21-1.72] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 6 | 144263042 | rs147054773 | T | G | rs147054773 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 147764267 | rs325105 | C | T | rs325105 | pha002853 | 1.95E-04 | phs000147 | 1.24 | [1.04-1.49] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 6 | 149558624 | rs4897094 | T | C | rs4897094 | 22228098 | 0.000523 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149558895 | rs1474637 | T | C | rs1474637 | 22228098 | 0.000272 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149562839 | rs6570956 | C | T | rs6570956 | 22228098 | 0.000078 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149562876 | rs6923382 | T | C | rs6923382 | 22228098 | 0.00022 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149565986 | rs7747474 | T | C | rs7747474 | 22228098 | 0.00003 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149566825 | rs6935566 | A | G | rs6935566 | 22228098 | 0.000198 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149568194 | rs9498267 | T | G | rs9498267 | 22228098 | 0.000197 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149605182 | rs9498283 | A | G | rs9498283 | 22452962 | 5.30E-06 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | NA |
| 6 | 149608874 | rs9485372 | G | A | rs9485372 | 22383897 | 4.00E-12 | NA | 1.11 | [1.09-1.15] | 2,918 Chinese ancestry cases; 2,324 Chinese ancestry controls | Chinese(5242) | ALL(5242) | ASN(5242) | ALL(5242) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs9485372-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 6 | 149810195 | rs2341768 | G | A | rs2341768 | 22228098 | 0.000183 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149810650 | rs6911016 | A | C | rs6911016 | 22228098 | 0.000721 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149811693 | rs60404985 | A | G | rs60404985 | 22228098 | 0.000711 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149813362 | rs4897128 | C | A | rs4897128 | 22228098 | 0.00021 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149813527 | rs4897129 | A | G | rs4897129 | 22228098 | 0.000224 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149813528 | rs4897130 | C | T | rs4897130 | 22228098 | 0.000238 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149813737 | rs6929614 | C | T | rs6929614 | 22228098 | 0.000863 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149813940 | rs1474640 | C | G | rs1474640 | 22228098 | 0.000202 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149814658 | rs2880075 | T | C | rs2880075 | 22228098 | 0.000825 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149814762 | rs2341551 | A | G | rs2341551 | 22228098 | 0.000828 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149815393 | rs2105200 | C | G | rs2105200 | 22228098 | 0.000828 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149815427 | rs2341550 | T | A | rs2341550 | 22228098 | 0.000218 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149815469 | rs62442787 | T | C | rs62442787 | 22228098 | 0.000828 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149815563 | rs62442788 | G | A | rs62442788 | 22228098 | 0.000218 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149815782 | rs17732745 | G | A | rs17732745 | 22228098 | 0.000218 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149816622 | rs4897131 | A | G | rs4897131 | 22228098 | 0.000825 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149816815 | rs4897132 | G | C | rs4897132 | 22228098 | 0.000825 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149816989 | rs4897133 | G | A | rs4897133 | 22228098 | 0.000231 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149817319 | rs7753560 | A | T | rs7753560 | 22228098 | 0.000818 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149820799 | rs7774559 | C | T | rs7774559 | 22228098 | 0.000707 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149820973 | rs6570968 | A | G | rs6570968 | 22228098 | 0.000717 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149821322 | rs12524946 | A | G | rs12524946 | 22228098 | 0.000235 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149821744 | rs9377220 | A | T | rs9377220 | 22228098 | 0.000241 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149821755 | rs9377221 | A | T | rs9377221 | 22228098 | 0.00025 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149822006 | rs9377222 | A | G | rs9377222 | 22228098 | 0.00024 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149822009 | rs9390684 | G | A | rs9390684 | 22228098 | 0.000239 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149823896 | rs62442789 | C | A | rs62442789 | 22228098 | 0.000678 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149823899 | rs62442790 | C | A | rs62442790 | 22228098 | 0.000224 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149829761 | rs12665533 | C | T | rs12665533 | 22228098 | 0.000356 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149831810 | rs62442792 | G | A | rs62442792 | 22228098 | 0.000359 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149831874 | rs62442793 | G | A | rs62442793 | 22228098 | 0.000359 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149832751 | rs9377223 | C | T | rs9377223 | 22228098 | 0.000761 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149834574 | rs9373594 | T | C | rs9373594 | 22228098 | 0.000426 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149836320 | rs78296717 | G | A | rs78296717 | 22228098 | 0.00033 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149840177 | rs4897137 | G | A | rs4897137 | 22228098 | 0.000329 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149840543 | rs4897138 | G | A | rs4897138 | 22228098 | 0.000329 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149842694 | rs1125107 | T | C | rs1125107 | 22228098 | 0.000332 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149844785 | rs12663698 | C | T | rs12663698 | 22228098 | 0.000226 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149845650 | rs10485097 | G | A | rs10485097 | 22228098 | 0.00033 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149846962 | rs62442795 | C | T | rs62442795 | 22228098 | 0.000329 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149849132 | rs9800648 | C | T | rs9800648 | 22228098 | 0.00033 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149850806 | rs9390687 | G | A | rs9390687 | 22228098 | 0.000334 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149852038 | rs9689569 | G | A | rs9689569 | 22228098 | 0.000338 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149853707 | rs9377224 | C | G | rs9377224 | 22228098 | 0.000265 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149855742 | rs761617 | C | T | rs761617 | 22228098 | 0.000187 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149861604 | rs9406344 | A | G | rs9406344 | 22228098 | 0.000184 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149865296 | rs62442798 | C | T | rs62442798 | 22228098 | 0.000273 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149866780 | rs3813675 | C | A | rs3813675 | 22228098 | 0.000271 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149868764 | rs4869797 | A | G | rs4869797 | 22228098 | 0.000273 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149873067 | rs9404044 | G | A | rs9404044 | 22228098 | 0.000273 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149873490 | rs9373595 | A | G | rs9373595 | 22228098 | 0.000236 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149874177 | rs9399690 | G | A | rs9399690 | 22228098 | 0.000274 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 149874941 | rs9390689 | G | A | rs9390689 | 22228098 | 0.000278 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 149878005 | rs4869701 | T | C | rs4869701 | 22228098 | 0.000285 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149878587 | rs62439776 | C | A | rs62439776 | 22228098 | 0.000286 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 149881414 | rs28580659 | T | A | rs28580659 | 22228098 | 0.000234 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 149886122 | rs62439778 | G | A | rs62439778 | 22228098 | 0.000185 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151243840 | rs175854 | T | C | rs175854 | 22228098 | 0.000132 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151649651 | rs113035196 | G | C | rs113035196 | 22228098 | 0.000684 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151654269 | rs2626356 | T | C | rs2626356 | 22228098 | 0.000422 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151654653 | rs2786746 | A | T | rs2786746 | 22228098 | 0.000351 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151655394 | rs2101240 | A | G | rs2101240 | 22228098 | 0.000457 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151655623 | rs77354896 | A | G | rs77354896 | 22228098 | 0.000188 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151660544 | rs55702615 | G | A | rs55702615 | 22228098 | 0.000109 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151661117 | rs2128947 | A | G | rs2128947 | 22228098 | 0.00018 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151661141 | rs2128948 | G | A | rs2128948 | 22228098 | 0.000175 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151663521 | rs55643577 | G | A | rs55643577 | 22228098 | 0.000115 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151668244 | rs7776145 | G | A | rs7776145 | 22228098 | 0.000152 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151671182 | rs41289369 | C | T | rs41289369 | 22228098 | 0.000217 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151672812 | rs3734797 | G | A | rs3734797 | 22228098 | 0.000376 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151674593 | rs3734795 | G | T | rs3734795 | 22228098 | 0.000359 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151676725 | rs59387598 | C | T | rs59387598 | 22228098 | 0.000418 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151677358 | rs3734794 | C | T | rs3734794 | 22228098 | 0.00042 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151678063 | rs41289379 | C | T | rs41289379 | 22228098 | 0.000421 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151682362 | rs4870013 | C | T | rs4870013 | 22228098 | 0.000515 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151808248 | rs9371522 | A | G | rs9371522 | 22228098 | 0.000605 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151822015 | rs4869732 | C | T | rs4869732 | 22228098 | 0.000216 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151823813 | rs1482061 | C | T | rs1482061 | 22228098 | 0.000248 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151835532 | rs143390228 | A | G | rs143390228 | 22228098 | 0.00021 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151838856 | rs57521493 | C | T | rs57521493 | 22228098 | 0.000401 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151839433 | rs75318086 | T | A | rs75318086 | 22228098 | 0.000279 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151840638 | rs79699315 | G | C | rs79699315 | 22228098 | 0.000251 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151845594 | rs77942641 | A | T | rs77942641 | 22228098 | 0.000231 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151846821 | rs9383917 | C | T | rs9383917 | 22228098 | 0.000782 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151847849 | rs9371531 | A | T | rs9371531 | 22228098 | 0.000814 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151848066 | rs35324372 | G | A | rs35324372 | 22228098 | 0.000811 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151849927 | rs4870032 | C | T | rs4870032 | 22228098 | 0.000717 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151854094 | rs17054385 | C | T | rs17054385 | 22228098 | 0.000717 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151858598 | rs9371220 | C | T | rs9371220 | 22228098 | 0.000695 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151860110 | rs1856859 | T | G | rs1856859 | 22228098 | 0.000646 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151872090 | rs4870040 | T | C | rs4870040 | 22228098 | 0.000627 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151872324 | rs4870041 | G | A | rs4870041 | 22228098 | 0.000627 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151872500 | rs9371537 | T | C | rs9371537 | 22228098 | 0.000627 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151872791 | rs9397424 | C | T | rs9397424 | 22228098 | 0.000627 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151872963 | rs9371538 | A | T | rs9371538 | 22228098 | 0.000634 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151873024 | rs9397425 | G | T | rs9397425 | 22228098 | 0.000588 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151873358 | rs9383581 | C | T | rs9383581 | 22228098 | 0.000679 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151873896 | rs13213582 | C | T | rs13213582 | 22228098 | 0.00068 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151875034 | rs9397427 | A | G | rs9397427 | 22228098 | 0.000336 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151875067 | rs9383924 | G | A | rs9383924 | 22228098 | 0.000335 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151875080 | rs9397428 | T | G | rs9397428 | 22228098 | 0.000285 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151875122 | rs11759804 | C | T | rs11759804 | 22228098 | 0.000302 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151876044 | rs35183457 | C | T | rs35183457 | 22228098 | 0.000336 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151876216 | rs66775662 | A | C | rs66775662 | 22228098 | 0.000345 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151876256 | rs71549128 | G | A | rs71549128 | 22228098 | 0.000248 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151876260 | rs71549129 | A | G | rs71549129 | 22228098 | 0.000265 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151876387 | rs28517362 | G | A | rs28517362 | 22228098 | 0.000339 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151876486 | rs35106185 | G | A | rs35106185 | 22228098 | 0.000338 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151876494 | rs35564624 | T | G | rs35564624 | 22228098 | 0.000338 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151876661 | rs35025342 | A | G | rs35025342 | 22228098 | 0.000338 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151876730 | rs67445790 | T | C | rs67445790 | 22228098 | 0.000338 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151876909 | rs975459 | T | C | rs975459 | 22228098 | 0.000337 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151877569 | rs9397429 | G | A | rs9397429 | 22228098 | 0.000315 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151881805 | rs6904133 | G | T | rs6904133 | 22228098 | 0.00045 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151883930 | rs9397431 | C | T | rs9397431 | 22228098 | 0.000322 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151885986 | rs9371221 | C | A | rs9371221 | 22228098 | 0.000307 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151887150 | rs958283 | G | A | rs958283 | 22228098 | 0.000309 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151888053 | rs4870042 | G | C | rs4870042 | 22228098 | 0.000342 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151890603 | rs1340873 | A | T | rs1340873 | 22228098 | 0.000224 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151893073 | rs4391273 | T | G | rs4391273 | 22228098 | 0.000772 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151893946 | rs7741872 | C | G | rs7741872 | 22228098 | 0.000068 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151896937 | rs9383928 | A | G | rs9383928 | 22228098 | 0.000029 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151898506 | rs1871859 | C | T | rs1871859 | 22228098 | 0.00024 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151900657 | rs7749563 | G | C | rs7749563 | 22228098 | 0.000034 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151914113 | rs3757318 | G | A | rs3757318 | 20453838 | 3.00E-06 | NA | 1.3 | [1.17-1.46] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3757318-A | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A,G |
| 6 | 151914113 | rs3757318 | G | A | rs3757318 | 23535729 | 2.00E-21 | NA | 1.16 | [1.12-1.21] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3757318-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A,G |
| 6 | 151914113 | rs3757318 | G | A | rs3757318 | 23535733 | 2.50E-11 | NA | 1.22 | [1.15-1.30] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3757318-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A,G |
| 6 | 151914113 | rs3757318 | G | A | rs3757318 | 24325915 | 9.00E-06 | NA | 1.33 | [1.17-1.51] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs3757318-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A,G |
| 6 | 151914951 | rs9397064 | T | C | rs9397064 | 22228098 | 0.000019 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151916855 | rs9397432 | G | C | rs9397432 | 22228098 | 0.0000037 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151918023 | rs4524618 | G | A | rs4524618 | 22228098 | 0.0000037 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151919432 | rs9397433 | C | A | rs9397433 | 22228098 | 0.000129 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151922654 | rs12055593 | G | A | rs12055593 | 22228098 | 0.0000047 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151922654 | rs144381984 | G | GGT | rs12055593 | 22228098 | 0.0000047 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151923982 | rs4304175 | T | C | rs4304175 | 22228098 | 0.000026 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151927268 | rs11155799 | T | C | rs11155799 | 22228098 | 0.000072 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151929942 | rs6557158 | A | G | rs6557158 | 22228098 | 0.000026 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151933175 | rs1038304 | A | G | rs1038304 | 20852631 | 1.03E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 6 | 151937679 | rs79692348 | C | T | rs79692348 | 22228098 | 0.0000021 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151939350 | rs3734805 | A | C | rs3734805 | 21263130 | 1.00E-07 | NA | 1.19 | [1.11-1.27] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3734805-C | Research Support, Non-U.S. Gov't | Comparative Study |
| 6 | 151943302 | rs72501739 | C | G | rs72501739 | 22228098 | 0.0000023 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151943639 | rs4591859 | T | C | rs4591859 | 22383897 | 8.60E-09 | NA | NA | NA | 2,918 Chinese ancestry cases; 2,324 Chinese ancestry controls | Chinese(5242) | ALL(5242) | ASN(5242) | ALL(5242) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 6 | 151945666 | rs7776340 | C | T | rs7776340 | 22383897 | 1.40E-08 | NA | NA | NA | 2,918 Chinese ancestry cases; 2,324 Chinese ancestry controls | Chinese(5242) | ALL(5242) | ASN(5242) | ALL(5242) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 6 | 151948366 | rs2046210 | G | A | rs2046210 | 19219042 | 2.00E-15 | NA | 1.29 | [1.21-1.37] | 1,505 Chinese ancestry cases; 1,522 Chinese ancestry controls | Chinese(3027) | ALL(3027) | ASN(3027) | ALL(3027) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2046210-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 6 | 151948366 | rs2046210 | G | A | rs2046210 | 23535729 | 2.00E-19 | NA | 1.08 | [1.06-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2046210-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151948366 | rs2046210 | G | A | rs2046210 | 23535733 | 5.00E-16 | NA | 1.15 | [1.11-1.19] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2046210-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151948366 | rs2046210 | G | A | rs2046210 | 23544013 | 5.00E-09 | NA | 1.28 | [1.18-1.39] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs2046210-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 151948366 | rs2046210 | G | A | rs2046210 | 24325915 | 5.26E-05 | NA | 1.16 | [1.08-1.24] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs2046210-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151957714 | rs12173570 | C | T | rs12173570 | 22747683 | 6.00E-11 | NA | 0.17 | [0.12-0.22] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs12173570-T | NA | C | NA |
| 6 | 151974422 | rs10484919 | C | T | rs10484919 | 24325915 | 5.70E-06 | NA | 1.31 | [1.16-1.47] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10484919-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151974492 | rs78841457 | G | A | rs78841457 | 22228098 | 0.0000081 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151975565 | rs78177662 | C | T | rs78177662 | 22228098 | 0.000006 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151977268 | rs74728399 | A | G | rs74728399 | 22228098 | 0.0000067 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151978964 | rs59623026 | A | G | rs59623026 | 22228098 | 0.0000067 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151980730 | rs17081551 | T | C | rs17081551 | 22228098 | 0.0000075 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151981844 | rs60220348 | T | C | rs60220348 | 22228098 | 0.0000074 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151982681 | rs58374672 | T | A | rs58374672 | 22228098 | 0.0000097 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 151982879 | rs77315705 | C | T | rs77315705 | 22228098 | 0.0000096 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151983383 | rs77758681 | C | A | rs77758681 | 22228098 | 0.0000096 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151987357 | rs9383938 | G | T | rs9383938 | 22976474 | 2.00E-10 | NA | 1.28 | NA | 3,666 European ancestry cases; 28,864 European ancestry controls; 1,004 African American cases; 2,744 African American controls | African American(3748) | European(32530) | ALL(36278) | AFR(3748) | EUR(32530) | ALL(36278) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs9383938-T | Research Support, N.I.H., Extramural |
| 6 | 151990488 | rs61176871 | G | A | rs61176871 | 22228098 | 0.000026 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151991750 | rs75770678 | G | C | rs75770678 | 22228098 | 0.000027 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 151992984 | rs9479093 | A | G | rs9479093 | 22228098 | 0.000018 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151993715 | rs77668774 | A | G | rs77668774 | 22228098 | 0.000016 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 151993723 | rs74431386 | C | T | rs74431386 | 22228098 | 0.000015 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 151999415 | rs146376469 | C | T | rs146376469 | 22228098 | 0.000018 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152008780 | rs3020331 | C | T | rs3020331 | 22228098 | 0.000557 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152008982 | rs2941741 | G | A | rs2941741 | 22228098 | 0.000681 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152009638 | rs2941740 | A | G | rs2941740 | 22228098 | 0.000481 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152009638 | rs2941740 | A | G | rs2941740 | 23555315 | 0.00085 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152010534 | rs2982573 | T | C | rs2982573 | 22228098 | 0.000479 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152010561 | rs2982572 | C | T | rs2982572 | 22228098 | 0.000476 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152012739 | rs2982571 | A | T | rs2982571 | 22228098 | 0.000808 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152012956 | rs3020334 | A | G | rs3020334 | 22228098 | 0.000808 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152012988 | rs2941742 | A | G | rs2941742 | 22228098 | 0.000812 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152013223 | rs3020335 | G | T | rs3020335 | 22228098 | 0.000806 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152013748 | rs2982570 | C | T | rs2982570 | 22228098 | 0.000869 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152013760 | rs3020336 | G | T | rs3020336 | 22228098 | 0.000832 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152017958 | rs1293935 | C | G | rs1293935 | 22228098 | 0.000562 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152020390 | rs851985 | A | C,G,T | rs851985 | 22228098 | 0.000054 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152023191 | rs851984 | G | A | rs851984 | 22228098 | 0.000072 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152024415 | rs851983 | A | G | rs851983 | 22228098 | 0.000046 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152024985 | rs851982 | T | C | rs851982 | 22228098 | 0.000089 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152027012 | rs9383591 | G | C | rs9383591 | 22228098 | 0.000011 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152035710 | rs8180576 | C | A | rs8180576 | 22228098 | 0.000015 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152040291 | rs12525163 | T | C | rs12525163 | 23555315 | 0.00087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152061210 | rs2982551 | G | T | rs2982551 | 22228098 | 0.000565 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152061474 | rs2982550 | G | T | rs2982550 | 22228098 | 0.000623 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152061579 | rs3020301 | T | C | rs3020301 | 22228098 | 0.000569 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152067500 | rs9397445 | T | C | rs9397445 | 22228098 | 0.000124 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152068364 | rs1999805 | G | A | rs1999805 | 23555315 | 0.00041 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152073318 | rs9322330 | G | A | rs9322330 | 22228098 | 0.000239 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152077895 | rs11155812 | C | T | rs11155812 | 22228098 | 0.000709 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152080665 | rs4644077 | A | T | rs4644077 | 22228098 | 0.000849 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152082646 | rs9371551 | G | A | rs9371551 | 22228098 | 0.000655 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152082973 | rs9479107 | T | A | rs9479107 | 22228098 | 0.000787 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152087345 | rs118028050 | G | A | rs118028050 | 22228098 | 0.000075 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152123593 | rs79994281 | C | A | rs79994281 | 22228098 | 0.000244 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152128631 | rs867239 | C | G | rs867239 | 22228098 | 0.000568 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152129588 | rs6914438 | C | T | rs6914438 | 22228098 | 0.000213 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152131121 | rs12660738 | A | G | rs12660738 | 22228098 | 0.000356 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152131321 | rs6920483 | G | A | rs6920483 | 22228098 | 0.000625 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152133187 | rs3778609 | C | T | rs3778609 | 22228098 | 0.000158 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152133351 | rs3778610 | A | G | rs3778610 | 22228098 | 0.000514 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152137404 | rs13362642 | A | G | rs13362642 | 22228098 | 0.000664 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152140867 | rs9479121 | C | T | rs9479121 | 22228098 | 0.000739 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152140940 | rs9479122 | G | A | rs9479122 | 22228098 | 0.000704 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152141622 | rs12523770 | C | T | rs12523770 | 22228098 | 0.000266 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152141657 | rs12523805 | G | T | rs12523805 | 22228098 | 0.000702 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 152145916 | rs7771894 | C | T | rs7771894 | 22228098 | 0.000142 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T,C |
| 6 | 152146580 | rs9479126 | T | C | rs9479126 | 22228098 | 0.000473 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 152151196 | rs12527007 | A | G | rs12527007 | 22228098 | 0.000453 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 152155126 | rs28457010 | C | T | rs28457010 | 22228098 | 0.000456 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 152295613 | rs9383951 | G | C | rs9383951 | 22383897 | 2.00E-06 | NA | 1.14 | [1.08-1.19] | 2,918 Chinese ancestry cases; 2,324 Chinese ancestry controls | Chinese(5242) | ALL(5242) | ASN(5242) | ALL(5242) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs9383951-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 6 | 152534783 | rs139466191 | A | C | rs139466191 | 23555315 | 0.00025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 6 | 154412236 | rs17174822 | C | T | rs17174822 | 23555315 | 0.000001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 1486451 | rs75056037 | G | A | rs75056037 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 3718051 | rs7790719 | A | G | rs7790719 | 24325915 | 8.00E-05 | NA | 1.16 | [1.08-1.25] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 4259879 | rs149005994 | A | G | rs149005994 | 23555315 | 0.000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 4259879 | rs149005994 | A | G | rs149005994 | 23555315 | 0.00014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 5153283 | rs6463266 | G | T | rs6463266 | 17529967 | 2.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 7 | 8550956 | rs2349485 | G | T | rs2349485 | 23544013 | 1.13E-04 | BRCA1 mutation class I | 1.27 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs2349485-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 8550956 | rs2349485 | G | T | rs2349485 | 23544013 | 7.38E-04 | Breast Cancer ER-negative in BRCA1 carriers | 1.1 | [1.04-1.16] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 8550956 | rs2349485 | G | T | rs2349485 | 23544013 | 9.74E-06 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 8552614 | rs765855 | A | G | rs765855 | 23544013 | 2.39E-05 | BRCA1 mutation class I | 1.31 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs765855-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 8552614 | rs765855 | A | G | rs765855 | 23544013 | 3.47E-04 | Breast Cancer ER-negative in BRCA1 carriers | 1.11 | [1.04-1.18] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 8552614 | rs765855 | A | G | rs765855 | 23544013 | 4.00E-06 | NA | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 8552614 | rs765855 | A | G | rs765855 | 23544013 | 4.25E-06 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 12620790 | rs116532633 | C | G | rs116532633 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 15258456 | rs6977610 | C | T | rs6977610 | pha002853 | 1.72E-04 | phs000147 | 1.35 | [1.14-1.61] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | AGMO | intron | NM_001004320 |
| 7 | 30015432 | rs10234140 | C | A | rs10234140 | 22675492 | 4.20E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 30036319 | rs10274617 | C | G | rs10274617 | 22675492 | 3.80E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 30060803 | rs10282327 | A | G | rs10282327 | 22675492 | 2.30E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 30062557 | rs10231351 | A | G | rs10231351 | 22675492 | 2.00E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 30083021 | rs10488084 | A | C | rs10488084 | 22675492 | 2.00E-06 | NA | 0.18 | [NA] unit increase | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs10488084-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 30091671 | rs10256675 | C | T | rs10256675 | 22675492 | 1.70E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 30106795 | rs10254969 | G | A | rs10254969 | 22675492 | 1.70E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 30109353 | rs10263852 | G | A | rs10263852 | 22675492 | 1.90E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 36662843 | rs200327644 | A | C | rs200327644 | 23555315 | 0.00000087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 7 | 36952021 | rs10488023 | A | G | rs10488023 | 22747683 | 8.00E-06 | NA | 0.1 | [0.056-0.142] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs10488023-G | NA | A | ELMO1 |
| 7 | 47305323 | rs11766408 | T | C | rs11766408 | 18463975 | 0.0000988 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 7 | 47315291 | rs9876 | G | A | rs9876 | 18463975 | 0.000146 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 7 | 54265587 | rs4425715 | G | A | rs4425715 | 24325915 | 1.70E-05 | NA | 1.17 | [1.09-1.26] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4425715-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 55221725 | rs138847501 | G | A | rs138847501 | 23555315 | 0.00023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 67059267 | rs10263639 | T | C | rs10263639 | 17903305 | 3.00E-06 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 7 | 67742720 | rs3108049 | T | C | rs3108049 | 21060860 | 1.57E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 70970026 | rs4717599 | G | A | rs4717599 | 24325915 | 6.60E-05 | NA | 1.18 | [1.09-1.27] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 71982924 | rs2909969 | G | A | rs2909969 | 23423446 | 1.60E-10 | NA | NA | NA | 731 European ancestry cases | European(731) | ALL(731) | EUR(731) | ALL(731) | Breast cancer (Postmenopausal women) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 7 | 72825125 | rs4717763 | A | G | rs4717763 | 23555315 | 0.00044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 79903870 | rs4728044 | G | A | rs4728044 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 7 | 81714211 | rs80063198 | T | C | rs80063198 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 86990819 | rs144004176 | A | C | rs144004176 | 23555315 | 0.000014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 89334668 | rs2724463 | T | G | rs2724463 | pha002853 | 2.17E-04 | phs000147 | 1.03 | [0.87-1.23] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 7 | 91407769 | rs17164117 | G | C | rs17164117 | 22452962 | 1.10E-04 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | NA |
| 7 | 97125486 | rs7802958 | C | T | rs7802958 | 18463975 | 0.0000912 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 7 | 97146387 | rs4727369 | C | A | rs4727369 | 18463975 | 0.000216 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 7 | 97993362 | rs3779195 | T | A | rs3779195 | 22829776 | 3.00E-08 | Men + Women | 0.03 | [0.018-0.038] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs3779195-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 7 | 100675940 | rs145279256 | A | G | rs145279256 | 23555315 | 0.0000046 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 100691288 | rs144198145 | A | T | rs144198145 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 101183198 | rs190166648 | C | T | rs190166648 | 23555315 | 0.00000015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 101244974 | rs17135662 | C | A | rs17135662 | 22675492 | 8.69E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 7 | 103628036 | rs17157903 | C | T | rs17157903 | 17529973 | 8.80E-06 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 7 | 103628036 | rs17157903 | C | T | rs17157903 | pha002853 | 1.03E-05 | phs000147 | 1.59 | [1.31-1.94] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | RELN | intron | NM_005045 |
| 7 | 111642646 | rs61159171 | C | T | rs61159171 | 22747683 | 6.00E-06 | NA | 0.08 | [0.042-0.108] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs61159171-T | NA | C | DOCK4 |
| 7 | 130653851 | rs2048672 | C | A | rs2048672 | 21908515 | 6.00E-06 | NA | 1.11 | [1.05-1.17] | 2,062 East Asian ancestry cases; 2,066 East Asian ancestry controls | East Asian(4128) | ALL(4128) | ASN(4128) | ALL(4128) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2048672-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 7 | 131199903 | rs2433294 | C | G | rs2433294 | 21060860 | 1.87E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 131865683 | rs7809724 | T | C | rs7809724 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 7 | 134225827 | rs4728329 | A | G | rs4728329 | 21245432 | 0.00003 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 7 | 134849280 | rs292501 | T | A | rs292501 | 23555315 | 0.00021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 7 | 137848981 | rs10238886 | A | G | rs10238886 | 18463975 | 0.000496 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 7 | 144074929 | rs720475 | G | A | rs720475 | 23535729 | 7.00E-11 | NA | 1.06 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs720475-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 144702577 | rs10251934 | C | T | rs10251934 | 22452962 | 2.50E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 7 | 149475056 | rs200849829 | G | A | rs200849829 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 7 | 151071225 | rs199876601 | C | T | rs199876601 | 23555315 | 0.000031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 7 | 151073747 | rs202096934 | G | A | rs202096934 | 23555315 | 0.000039 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 7 | 151345995 | rs112730042 | T | TCTTTT,TTTTTC | rs4726078 | 21062454 | 2.79E-05 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 7 | 151345995 | rs4726078 | T | C | rs4726078 | 21062454 | 2.79E-05 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 7 | 151345995 | rs57131053 | T | TTTTTC | rs4726078 | 21062454 | 2.79E-05 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 7 | 151407801 | rs7805747 | G | A | rs7805747 | 23555315 | 0.00043 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 7 | 155884468 | rs4716985 | A | G | rs4716985 | 23544013 | 1.71E-04 | Breast Cancer ER-negative in BRCA1 carriers | 1.12 | [1.05-1.19] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 155884468 | rs4716985 | A | G | rs4716985 | 23544013 | 2.05E-05 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 155884468 | rs4716985 | A | G | rs4716985 | 23544013 | 4.38E-05 | BRCA1 mutation class I | 1.29 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs4716985-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 155894687 | rs10252939 | T | C | rs10252939 | 23544013 | 2.21E-04 | Breast Cancer ER-negative in BRCA1 carriers | 1.11 | [1.05-1.18] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 155894687 | rs10252939 | T | C | rs10252939 | 23544013 | 7.02E-05 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 155894687 | rs10252939 | T | C | rs10252939 | 23544013 | 7.21E-05 | BRCA1 mutation class I | 1.29 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs10252939-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 2795835 | rs583087 | T | C | rs583087 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 4875172 | rs10112481 | G | T | rs10112481 | 24025145 | 4.00E-06 | Allelic | 5.12 | [2.46-10.60] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10112481-A | Research Support, Non-U.S. Gov't | T | NA |
| 8 | 8850633 | rs17701675 | G | A | rs17701675 | 21060860 | 2.43E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 10316236 | rs1986357 | G | A | rs1986357 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G,A |
| 8 | 10388498 | rs4841365 | G | C | rs4841365 | 17529967 | 5.00E-06 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | PRSS55 |
| 8 | 13173319 | rs17801135 | A | G | rs17801135 | 18463975 | 0.000484 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 18257583 | rs45477599 | T | A | rs45477599 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 8 | 19362732 | rs146273214 | G | A | rs146273214 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 20107816 | rs141630311 | G | A | rs141630311 | 23555315 | 0.00036 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 22398155 | rs117993834 | A | G | rs117993834 | 23555315 | 0.0000051 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 22885246 | rs141856351 | G | A | rs141856351 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 23454052 | rs11776817 | C | T | rs11776817 | pha002853 | 1.66E-04 | phs000147 | 1.36 | [1.14-1.61] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 8 | 26584614 | rs6993922 | G | A | rs6993922 | 21062454 | 6.18E-06 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 29509616 | rs9693444 | A | C | rs9693444 | 23535729 | 9.00E-14 | NA | 1.07 | [1.05-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs9693444-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 29875964 | rs4107736 | G | A | rs4107736 | pha002853 | 5.53E-05 | phs000147 | 1.1 | [0.91-1.33] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 8 | 29884077 | rs12682293 | A | C | rs12682293 | pha002853 | 7.12E-05 | phs000147 | 1.08 | [0.89-1.30] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 8 | 36846109 | rs7816345 | C | T | rs7816345 | 22747683 | 2.00E-14 | NA | 0.15 | [0.11-0.19] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs7816345-T | NA | T | NA |
| 8 | 39027494 | rs199865553 | G | A | rs199865553 | 23555315 | 0.0000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 8 | 39862893 | rs35212142 | T | A | rs35212142 | 23555315 | 0.000096 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 8 | 42587552 | rs56198260 | G | A | rs56198260 | 23555315 | 0.00074 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 51362258 | rs145093612 | G | A | rs145093612 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 55538687 | rs147990983 | C | T | rs147990983 | 23555315 | 0.000086 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 55538687 | rs147990983 | C | T | rs147990983 | 23555315 | 0.00018 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 59708309 | rs960089 | C | T | rs960089 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 61654847 | rs61995713 | A | G | rs61995713 | 23555315 | 0.000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 71570411 | rs7814274 | T | C | rs7814274 | 18463975 | 0.000363 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 71602009 | rs12675271 | A | G | rs12675271 | 18463975 | 0.00031 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 71654087 | rs6472542 | A | G | rs6472542 | 18463975 | 0.000439 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 71662741 | rs1348535 | T | G | rs1348535 | 18463975 | 0.000136 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 71714133 | rs13257800 | T | C | rs13257800 | 18463975 | 0.000136 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 71781849 | rs6472551 | G | A | rs6472551 | 18463975 | 0.000136 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 76230301 | rs6472903 | G | T | rs6472903 | 23535729 | 2.00E-17 | NA | 1.1 | [1.08-1.12] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6472903-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 8 | 76417937 | rs2943559 | A | G | rs2943559 | 23535729 | 6.00E-15 | NA | 1.13 | NA | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2943559-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 76417937 | rs2943559 | A | G | rs2943559 | 23535733 | 2.50E-04 | NA | 1.12 | [1.05-1.18] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2943559-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 79973576 | rs17517571 | G | A | rs17517571 | 21060860 | 9.13E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 80520645 | rs16906958 | G | A | rs16906958 | 23518928 | 5.38E-07 | NA | 1.86 | [1.461-2.361] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 81461974 | rs440837 | A | G | rs440837 | 22829776 | 3.00E-09 | Men + Women | 0.03 | [0.019-0.037] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs440837-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 8 | 81461974 | rs440837 | A | G | rs440837 | 22829776 | 7.00E-08 | Women | 0.04 | [0.027-0.057] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs440837-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 8 | 86217265 | rs13257749 | C | A | rs13257749 | 21060860 | 9.70E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 89268543 | rs6994019 | T | G | rs6994019 | 20852631 | 2.71E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 8 | 93247362 | rs6471335 | G | A | rs6471335 | pha002853 | 1.33E-04 | phs000147 | 1.21 | [1.02-1.44] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 8 | 98272647 | rs2439702 | C | T | rs2439702 | 23518928 | 6.60E-09 | NA | 1.63 | [1.385699-1.921922] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98273448 | rs2451113 | G | A | rs2451113 | 23518928 | 4.62E-09 | NA | 1.63 | [1.389243-1.921925] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98273762 | rs2451114 | G | A | rs2451114 | 23518928 | 1.50E-09 | NA | 1.64 | [1.402311-1.928305] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98276912 | rs1348184 | C | G | rs1348184 | 23518928 | 1.58E-08 | NA | 1.62 | [1.37075-1.90498] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98277168 | rs2439700 | G | A | rs2439700 | 23518928 | 1.58E-08 | NA | 1.62 | [1.37075-1.90498] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98278923 | rs2053481 | C | T | rs2053481 | 23518928 | 1.58E-08 | NA | 1.62 | [1.37075-1.90498] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98278951 | rs2053480 | T | A | rs2053480 | 23518928 | 6.84E-09 | NA | 1.63 | [1.383235-1.916056] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98279182 | rs2567773 | G | A | rs2567773 | 23518928 | 6.84E-09 | NA | 1.63 | [1.383235-1.916056] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98281319 | rs2853312 | T | C | rs2853312 | 23518928 | 8.27E-09 | NA | 1.62 | [1.377337-1.904943] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98281847 | rs2583506 | G | A | rs2583506 | 23518928 | 1.55E-08 | NA | 1.61 | [1.369888-1.90198] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98282189 | rs1864729 | G | A | rs1864729 | 23518928 | 3.00E-08 | NA | 1.59 | [1.35-1.871] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98282643 | rs1835743 | T | C | rs1835743 | 23518928 | 2.29E-08 | NA | 1.61 | [1.362664-1.893006] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98282716 | rs1431891 | A | G | rs1431891 | 23518928 | 2.29E-08 | NA | 1.61 | [1.362664-1.893006] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98282907 | rs2635161 | G | T | rs2635161 | 23518928 | 2.29E-08 | NA | 1.61 | [1.362664-1.893006] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98283404 | rs2583504 | G | C | rs2583504 | 23518928 | 2.03E-08 | NA | 1.61 | [1.367138-1.902177] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98283509 | rs2853318 | A | T | rs2853318 | 23518928 | 1.78E-08 | NA | 1.61 | [1.367697-1.899885] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98283523 | rs2853320 | C | G | rs2853320 | 23518928 | 1.78E-08 | NA | 1.61 | [1.367697-1.899885] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98283629 | rs2635162 | G | A | rs2635162 | 23518928 | 1.50E-08 | NA | 1.62 | [1.374058-1.912853] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98297848 | rs2567769 | G | A | rs2567769 | 23518928 | 6.49E-08 | NA | 1.58 | [1.341-1.864] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 98303151 | rs2567768 | G | A | rs2567768 | 23518928 | 2.61E-07 | NA | 1.53 | [1.305-1.8] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 8 | 102140698 | rs2053741 | G | A | rs2053741 | 21060860 | 4.25E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 116631660 | rs61745721 | T | C | rs61745721 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 8 | 117136227 | rs6469633 | T | C | rs6469633 | 17529967 | 3.00E-07 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | LINC00536 |
| 8 | 122700197 | rs200345796 | AT | A | rs920455 | pha002853 | 1.71E-04 | phs000147 | 1.33 | [1.12-1.59] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 8 | 122700197 | rs920455 | A | G | rs920455 | pha002853 | 1.71E-04 | phs000147 | 1.33 | [1.12-1.59] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 8 | 128026410 | rs1026411 | G | A | rs1026411 | 21060860 | 3.92E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 128345269 | rs673745 | C | T | rs673745 | 24493630 | 2.02E-08 | NA | 1.14 | [1.09-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | NA |
| 8 | 128345731 | rs7826557 | C | A | rs7826557 | 24493630 | 3.42E-08 | NA | 1.14 | [1.09-1.19] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 8 | 128346358 | rs418269 | G | A | rs418269 | 24493630 | 2.13E-08 | NA | 1.14 | [1.09-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 8 | 128355019 | rs10098985 | G | T | rs10098985 | 24493630 | 3.72E-08 | NA | 1.14 | [1.09-1.19] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 8 | 128355618 | rs13281615 | A | G | rs13281615 | 17529967 | 5.00E-12 | NA | 1.08 | [1.05-1.11] | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13281615-T | Research Support, Non-U.S. Gov't | A | NA |
| 8 | 128355618 | rs13281615 | A | G | rs13281615 | 23535729 | 1.00E-27 | NA | 1.09 | [1.07-1.12] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13281615-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 8 | 128364271 | rs7002826 | G | C | rs7002826 | 24493630 | 2.06E-08 | NA | 1.14 | [1.09-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 8 | 128364906 | rs7007568 | G | C | rs7007568 | 24493630 | 2.23E-08 | NA | 1.14 | [1.09-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 8 | 128376801 | rs7815100 | T | C | rs7815100 | 24493630 | 2.56E-08 | NA | 1.14 | [1.09-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | NA |
| 8 | 128387852 | rs1562430 | T | C | rs1562430 | 20453838 | 6.00E-07 | NA | 1.17 | [1.10-1.25] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1562430-T | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 8 | 128387852 | rs1562430 | T | C | rs1562430 | 21263130 | 3.00E-11 | NA | 1.16 | [1.11-1.22] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1562430-A | Research Support, Non-U.S. Gov't | Comparative Study |
| 8 | 128388025 | rs2392780 | A | G | rs2392780 | 24493630 | 1.00E-08 | NA | 1.15 | [1.10-1.20] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 8 | 128624885 | rs10956376 | T | C | rs10956376 | 18463975 | 0.00023 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 8 | 129194641 | rs11780156 | C | T | rs11780156 | 23535729 | 3.00E-11 | NA | 1.07 | [1.04-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11780156-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 134072363 | rs4486183 | G | T | rs4486183 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 8 | 135676891 | rs16905215 | G | A | rs16905215 | pha002853 | 1.89E-04 | phs000147 | 1.39 | [1.16-1.66] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | ZFAT | intron | NM_020863 |
| 8 | 135678804 | rs9785140 | C | T | rs9785140 | pha002853 | 1.26E-04 | phs000147 | 1.39 | [1.16-1.66] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | ZFAT | intron | NM_020863 |
| 8 | 142540925 | rs7837045 | A | C | rs7837045 | 22747683 | 5.00E-06 | NA | 0.09 | [0.053-0.131] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs7837045-A | NA | C | NA |
| 9 | 1715820 | rs7020507 | A | G | rs7020507 | 24325915 | 6.90E-05 | NA | 1.23 | [1.11-1.35] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 2203938 | rs6475600 | C | T | rs6475600 | 24025145 | 2.00E-06 | Allelic | 7.78 | [3.25-18.60] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs6475600-C | Research Support, Non-U.S. Gov't | T | NA |
| 9 | 7385490 | rs2148360 | T | C | rs2148360 | 23555315 | 0.00000081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 9 | 18125966 | rs579392 | C | T | rs579392 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 9 | 18928963 | rs150639454 | G | A | rs150639454 | 23555315 | 0.00000027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 22062134 | rs1011970 | G | T | rs1011970 | 20453838 | 3.00E-08 | NA | 1.09 | [1.04-1.14] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1011970-T | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 9 | 22062134 | rs1011970 | G | T | rs1011970 | 23535729 | 6.00E-08 | NA | 1.06 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1011970-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 22062134 | rs1011970 | G | T | rs1011970 | 23535733 | 3.90E-05 | NA | 1.09 | [1.05-1.14] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1011970-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 27009095 | rs144847384 | T | C | rs144847384 | 23555315 | 0.000064 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 9 | 27292474 | rs12337286 | T | C | rs12337286 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 9 | 32542016 | rs149817592 | T | C | rs149817592 | 23555315 | 0.00021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 9 | 34146645 | rs10814071 | C | T | rs10814071 | 22452962 | 2.30E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 9 | 35740902 | rs113785628 | C | A,G,T | rs113785628 | 23555315 | 0.000066 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 36869256 | rs10758409 | C | T | rs10758409 | 18463975 | 0.000244 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 9 | 37036247 | rs2282079 | G | A | rs2282079 | 20332263 | 2.76E-05 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 83027012 | rs7047256 | A | C | rs7047256 | 20852631 | 7.42E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 9 | 93546913 | rs290274 | G | A | rs290274 | 21060860 | 9.69E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 93557698 | rs10993693 | A | G | rs10993693 | 21060860 | 2.06E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 93565999 | rs1319677 | A | G | rs1319677 | 21060860 | 6.85E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 93569646 | rs12553524 | G | T | rs12553524 | 21060860 | 1.91E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 93570505 | rs7036417 | C | T | rs7036417 | 21060860 | 6.67E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 98638306 | rs56108623 | C | T | rs56108623 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 103051205 | rs7039994 | C | T | rs7039994 | 21062454 | 3.95E-06 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 103157515 | rs12000794 | C | A | rs12000794 | 21062454 | 5.40E-06 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 103691860 | rs13285273 | G | A | rs13285273 | pha002853 | 5.75E-05 | phs000147 | 1.45 | [1.19-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 9 | 103766537 | rs2417226 | G | A | rs2417226 | pha002853 | 8.20E-05 | phs000147 | 1.43 | [1.18-1.72] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 9 | 106772759 | rs1867347 | A | G | rs1867347 | pha002853 | 2.08E-04 | phs000147 | 1.22 | [1.01-1.47] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 9 | 109676893 | rs1858231 | A | G | rs1858231 | 24025145 | 2.00E-06 | Allelic | 2.71 | [1.79-4.12] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs1858231-C | Research Support, Non-U.S. Gov't | T | ZNF462 |
| 9 | 110306115 | rs10759243 | C | A | rs10759243 | 23535729 | 1.00E-08 | NA | 1.06 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10759243-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 9 | 110888478 | rs865686 | G | T | rs865686 | 21263130 | 2.00E-10 | NA | 1.12 | [1.09-1.18] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs865686-T | Research Support, Non-U.S. Gov't | Comparative Study |
| 9 | 110888478 | rs865686 | G | T | rs865686 | 23535729 | 1.00E-34 | NA | 1.12 | [1.10-1.14] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs865686-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 9 | 113112572 | rs963143 | G | T | rs963143 | 18463975 | 0.000185 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 9 | 113116973 | rs10816985 | G | C | rs10816985 | 18463975 | 0.000243 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 9 | 113259152 | rs10817033 | T | G | rs10817033 | 23555315 | 0.00041 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 9 | 114508557 | rs41306457 | G | A | rs41306457 | 23555315 | 0.000077 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 9 | 114990872 | rs7026917 | C | T | rs7026917 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 9 | 115000234 | rs2027384 | G | A | rs2027384 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 9 | 115011317 | rs1359878 | G | A | rs1359878 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 9 | 115023661 | rs6477905 | C | T | rs6477905 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 9 | 115030570 | rs7870866 | C | T | rs7870866 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 9 | 115416257 | rs786990 | A | G | rs786990 | 21060860 | 8.12E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 116132334 | rs3088235 | C | T | rs3088235 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 121905152 | rs7468009 | G | A | rs7468009 | 21245432 | 0.00003 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 9 | 126695770 | rs10818894 | G | A | rs10818894 | 24025145 | 2.00E-06 | Dominant | 10.4 | [3.56-30.10] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10818894-G | Research Support, Non-U.S. Gov't | A | NA |
| 9 | 130186700 | rs10819291 | C | T | rs10819291 | 23555315 | 0.0000034 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 130475480 | rs118012211 | C | T | rs118012211 | 23555315 | 0.0006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 9 | 131762080 | rs73624835 | A | G | rs73624835 | 23555315 | 0.000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 9 | 139925490 | rs141846761 | C | T | rs141846761 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 813426 | rs11253424 | C | T | rs11253424 | 18463975 | 0.000103 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 10 | 3643035 | rs705464 | G | A | rs705464 | 20852631 | 1.07E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 10 | 4151121 | rs10795130 | T | G | rs10795130 | 22675492 | 7.00E-06 | NA | 0.1 | [NA] unit increase | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs10795130-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 5665774 | rs17141741 | C | G | rs17141741 | 23468962 | 5.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 10 | 5886149 | rs7098372 | T | C | rs7098372 | 20453838 | 3.50E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5886734 | rs2380205 | C | T | rs2380205 | 20453838 | 5.00E-07 | NA | 1.06 | [1.02-1.10] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2380205-C | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5886962 | rs713588 | A | G | rs713588 | 20453838 | 4.00E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5887183 | rs867052 | A | G | rs867052 | 20453838 | 4.00E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5888427 | rs7897260 | C | G | rs7897260 | 20453838 | 4.30E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 5893268 | rs7894083 | A | C | rs7894083 | 20453838 | 4.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A,C |
| 10 | 5897906 | rs9663697 | C | T | rs9663697 | 20453838 | 4.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5898098 | rs12774966 | G | T | rs12774966 | 20453838 | 4.70E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 10 | 5898159 | rs4293038 | G | A | rs4293038 | 20453838 | 5.80E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 10 | 5898180 | rs4330991 | A | C | rs4330991 | 20453838 | 5.90E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5898802 | rs7072174 | T | C | rs7072174 | 20453838 | 6.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5899188 | rs7099029 | C | A | rs7099029 | 20453838 | 6.40E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5900032 | rs2380208 | C | G | rs2380208 | 20453838 | 6.30E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 5900332 | rs907685 | A | G | rs907685 | 20453838 | 6.20E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 5900693 | rs907686 | G | A | rs907686 | 20453838 | 6.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 10 | 5900822 | rs907688 | A | G | rs907688 | 20453838 | 7.10E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 10 | 5900973 | rs907689 | T | C | rs907689 | 20453838 | 7.10E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 6857307 | rs11254759 | G | A | rs11254759 | 21060860 | 2.35E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 10 | 6858920 | rs7895644 | T | G | rs7895644 | 21060860 | 2.27E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 6862055 | rs11254771 | A | G | rs11254771 | 21060860 | 1.66E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G,A |
| 10 | 8324889 | rs11255615 | T | C | rs11255615 | 24025145 | 5.00E-06 | Allelic | 2.4 | [1.65-3.53] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs11255615-G | Research Support, Non-U.S. Gov't | T | NA |
| 10 | 8714074 | rs2184380 | G | C,T | rs2184380 | 17529974 | 4.30E-07 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | C |
| 10 | 9251679 | rs1242969 | T | G | rs1242969 | pha002853 | 8.23E-05 | phs000147 | 1.47 | [1.23-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 10 | 11543661 | rs7085769 | G | A | rs7085769 | pha002853 | 1.11E-04 | phs000147 | 1.14 | [0.95-1.35] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | USP6NL | intron | NM_001080491 |
| 10 | 11564421 | rs4445554 | C | T | rs4445554 | pha002853 | 7.16E-05 | phs000147 | 1.12 | [0.94-1.35] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | USP6NL | intron | NM_001080491 |
| 10 | 11579546 | rs10508425 | G | A | rs10508425 | pha002853 | 1.56E-04 | phs000147 | 1.15 | [0.96-1.37] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | USP6NL | intron | NM_014688 |
| 10 | 13667731 | rs7089227 | G | T | rs7089227 | 24025145 | 7.00E-06 | Dominant | 1.99 | [1.37-2.90] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs7089227-G | Research Support, Non-U.S. Gov't | G | PRPF18 |
| 10 | 13918753 | rs10508468 | T | C | rs10508468 | 17529967 | 7.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | FRMD4A |
| 10 | 14675475 | rs10906720 | G | C | rs10906720 | 21060860 | 8.04E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 15943346 | rs11253684 | G | A | rs11253684 | 23555315 | 0.00047 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 10 | 16118555 | rs4748245 | A | G | rs4748245 | 18463975 | 0.000407 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 10 | 22032942 | rs7072776 | A | G | rs7072776 | 23535729 | 4.00E-14 | NA | 1.07 | [1.05-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs7072776-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 10 | 22315843 | rs11814448 | A | C | rs11814448 | 23535729 | 9.00E-16 | NA | 1.26 | [1.18-1.35] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11814448-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 10 | 24813550 | rs151027148 | G | A | rs151027148 | 23555315 | 0.00089 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 28438930 | rs147999424 | G | A | rs147999424 | 23555315 | 0.000038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 30230765 | rs7078452 | C | T | rs7078452 | 21060860 | 5.19E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 30336672 | rs72810797 | C | T | rs72810797 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 31014074 | rs12217435 | C | G | rs12217435 | 21060860 | 1.44E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 33260699 | rs17296289 | G | A | rs17296289 | 20332263 | 5.40E-05 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 33284653 | rs11591508 | C | T | rs11591508 | 20332263 | 3.27E-06 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 34237166 | rs11009601 | G | A | rs11009601 | 23555315 | 0.00089 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 10 | 45034672 | rs7072122 | C | T | rs7072122 | 23518928 | 6.00E-07 | NA | 1.73 | [1.397-2.141] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 10 | 46121704 | rs34082391 | T | C | rs34082391 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 50830155 | rs78925077 | C | G | rs78925077 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 55721531 | rs139087859 | T | C | rs139087859 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 56204291 | rs7476422 | G | T | rs7476422 | 24025145 | 3.00E-07 | Allelic | 2.06 | [1.54-2.75] | 303 Japanese ancestry cases; 880 Japanese ancestry controls | Japanese(1183) | ALL(1183) | ASN(1183) | ALL(1183) | Adverse response to chemotherapy in breast cancer (alopecia) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs7476422-G | Research Support, Non-U.S. Gov't | T | PCDH15 |
| 10 | 56301550 | rs11004359 | G | A | rs11004359 | pha002853 | 5.25E-05 | phs000147 | 1.45 | [1.19-1.75] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | PCDH15 | intron | NM_033056 |
| 10 | 61833684 | rs140463162 | C | T | rs140463162 | 23555315 | 0.000038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 64187564 | rs7089814 | C | T | rs7089814 | 22747683 | 3.00E-09 | NA | 0.1 | [0.065-0.127] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs7089814-C | NA | C | ZNF365 |
| 10 | 64251977 | rs10822013 | C | T | rs10822013 | 21908515 | 6.00E-09 | NA | 1.12 | [1.06-1.18] | 2,062 East Asian ancestry cases; 2,066 East Asian ancestry controls | East Asian(4128) | ALL(4128) | ASN(4128) | ALL(4128) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10822013-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 10 | 64261198 | rs16917302 | A | C | rs16917302 | 21060860 | 1.77E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 64263402 | rs4746409 | C | G | rs4746409 | 20453838 | 1.40E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 64275261 | rs4746419 | C | G | rs4746419 | 20453838 | 5.20E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 64278181 | rs10995189 | G | A | rs10995189 | 20453838 | 4.70E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 64278682 | rs10995190 | G | A | rs10995190 | 20453838 | 5.00E-15 | NA | 1.16 | [1.10-1.22] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10995190-G | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 64278682 | rs10995190 | G | A | rs10995190 | 23535729 | 1.00E-36 | NA | 1.16 | [1.14-1.19] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10995190-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 64278682 | rs10995190 | G | A | rs10995190 | 23535733 | 1.00E-07 | NA | 1.12 | [1.08-1.18] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10995190-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 64278874 | rs10995191 | C | T | rs10995191 | 20453838 | 4.20E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 64288130 | rs10995194 | G | C | rs10995194 | 20453838 | 1.50E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 64288389 | rs10995195 | T | C | rs10995195 | 20453838 | 4.30E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 10 | 65138910 | rs7910927 | T | G | rs7910927 | 22829776 | 1.00E-25 | Men | 0.05 | [0.041-0.059] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs7910927-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 10 | 65138910 | rs7910927 | T | G | rs7910927 | 22829776 | 2.00E-13 | Women | 0.05 | [0.034-0.058] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs7910927-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 10 | 65138910 | rs7910927 | T | G | rs7910927 | 22829776 | 6.00E-35 | Men + Women | 0.05 | [0.040-0.056] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs7910927-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 10 | 69672479 | rs116040871 | G | A | rs116040871 | 23555315 | 0.000061 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 72518075 | rs4747097 | C | T | rs4747097 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 10 | 75135891 | rs73272348 | C | G | rs73272348 | 23555315 | 0.000057 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 76703006 | rs10466033 | A | G | rs10466033 | 22747683 | 6.00E-06 | NA | 0.44 | [0.25-0.63] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs10466033-G | NA | G | KAT6B |
| 10 | 80091338 | rs1916400 | T | C | rs1916400 | pha002853 | 1.80E-04 | phs000147 | 1.15 | [0.95-1.39] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 10 | 80841148 | rs704010 | T | C | rs704010 | 20453838 | 4.00E-09 | NA | 1.07 | [1.03-1.11] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs704010-A | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80841148 | rs704010 | T | C | rs704010 | 23535729 | 7.00E-22 | NA | 1.08 | [1.06-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs704010-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 80845411 | rs1250009 | G | A | rs1250009 | 20453838 | 1.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 10 | 80846608 | rs1250005 | T | C | rs1250005 | 20453838 | 1.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80846814 | rs1250003 | C | T | rs1250003 | 20453838 | 1.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 10 | 80849336 | rs1250000 | A | G | rs1250000 | 20453838 | 1.80E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 80851257 | rs719338 | G | T | rs719338 | 20453838 | 2.10E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 10 | 80852602 | rs873823 | G | A | rs873823 | 20453838 | 4.40E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 10 | 80855423 | rs10762844 | G | A | rs10762844 | 20453838 | 8.50E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 10 | 80855650 | rs11002811 | G | A | rs11002811 | 20453838 | 2.60E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80857533 | rs11002813 | C | T | rs11002813 | 20453838 | 3.40E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 80858473 | rs11002814 | G | A | rs11002814 | 20453838 | 3.30E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80858592 | rs11002816 | G | A | rs11002816 | 20453838 | 3.30E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80872483 | rs11002824 | C | G | rs11002824 | 20453838 | 4.00E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 80873443 | rs16936863 | T | G | rs16936863 | 20453838 | 4.00E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80873608 | rs17557872 | A | G | rs17557872 | 20453838 | 3.90E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 80873883 | rs11002825 | C | A | rs11002825 | 20453838 | 4.00E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 80874092 | rs11002826 | G | A | rs11002826 | 20453838 | 3.90E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 10 | 81055626 | rs12355688 | C | T | rs12355688 | 23468962 | 6.00E-06 | NA | 1.24 | [1.13-1.36] | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs12355688-T | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 10 | 82331231 | rs12257493 | T | C | rs12257493 | 23555315 | 0.00056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 82331296 | rs77983942 | G | T | rs77983942 | 23555315 | 0.00056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 86649647 | rs12767486 | C | T | rs12767486 | pha002853 | 7.37E-05 | phs000147 | 1.16 | [0.97-1.38] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 10 | 87971273 | rs11201944 | G | C | rs11201944 | 20852631 | 4.82E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 10 | 93668692 | rs200280119 | G | A | rs200280119 | 23555315 | 0.0000025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 10 | 96541615 | rs6413438 | C | T | rs6413438 | 23555315 | 0.00037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 98095688 | rs147702836 | G | A | rs147702836 | 23555315 | 0.000017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 98095688 | rs147702836 | G | A | rs147702836 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 102247408 | rs2298075 | C | A | rs2298075 | 17529967 | 2.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | SEC31B |
| 10 | 104176384 | rs144256363 | T | G | rs144256363 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 105215062 | rs200456472 | C | T | rs200456472 | 23555315 | 0.000026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 10 | 105891932 | rs75941862 | T | C | rs75941862 | 23555315 | 0.0007 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 114734096 | rs11196174 | A | G | rs11196174 | 23544013 | 2.10E-04 | BRCA1 mutation class II | 1.46 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs11196174-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114734096 | rs11196174 | A | G | rs11196174 | 23544013 | 7.48E-07 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114734096 | rs11196174 | A | G | rs11196174 | 23544013 | 8.00E-07 | NA | 1.13 | [1.07-1.18] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs11196174-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114734096 | rs11196174 | A | G | rs11196174 | 23544013 | 9.55E-06 | Breast Cancer ER-negative in BRCA1 carriers | 1.14 | [1.07-1.20] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114736614 | rs11196175 | T | C | rs11196175 | 23544013 | 1.00E-06 | NA | 1.12 | [1.07-1.18] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs11196175-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114736614 | rs11196175 | T | C | rs11196175 | 23544013 | 1.15E-06 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114736614 | rs11196175 | T | C | rs11196175 | 23544013 | 1.21E-05 | Breast Cancer ER-negative in BRCA1 carriers | 1.14 | [1.07-1.20] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114736614 | rs11196175 | T | C | rs11196175 | 23544013 | 3.08E-04 | BRCA1 mutation class II | 1.45 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs11196175-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 114773927 | rs7904519 | A | G | rs7904519 | 23535729 | 3.00E-08 | NA | 1.06 | [1.04-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs7904519-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 114773927 | rs7904519 | A | G | rs7904519 | 23535733 | 2.90E-04 | NA | 1.06 | [1.03-1.09] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs7904519-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 114773927 | rs7904519 | A | G | rs7904519 | 24325915 | 9.95E-04 | NA | 1.12 | [1.05-1.20] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs7904519-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 118572521 | rs1681748 | T | C | rs1681748 | pha002853 | 1.83E-04 | phs000147 | 1.49 | [1.22-1.79] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 10 | 123093901 | rs11199914 | C | T | rs11199914 | 23535729 | 2.00E-08 | NA | 1.05 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11199914-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 10 | 123331690 | rs4752569 | A | T | rs4752569 | 17529967 | 3.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | FGFR2 |
| 10 | 123332415 | rs11200012 | T | A | rs11200012 | 17529967 | 1.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | FGFR2 |
| 10 | 123332577 | rs3750817 | C | T | rs3750817 | 17529967 | 1.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | FGFR2 |
| 10 | 123332577 | rs3750817 | C | T | rs3750817 | 22951594 | 8.00E-08 | NA | 1.22 | NA | 1,086 Japanese ancestry cases; 1,816 Japanese ancestry controls | Japanese(2902) | ALL(2902) | ASN(2902) | ALL(2902) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3750817-T | Research Support, Non-U.S. Gov't | Comparative Study | C |
| 10 | 123332577 | rs3750817 | C | T | rs3750817 | 24493630 | 3.39E-16 | NA | 1.23 | [1.17-1.30] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | FGFR2 |
| 10 | 123334457 | rs10736303 | G | A | rs10736303 | 17529967 | 5.00E-14 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | FGFR2 |
| 10 | 123334930 | rs11200014 | G | A | rs11200014 | 17529973 | 1.00E-05 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | G |
| 10 | 123334930 | rs11200014 | G | A | rs11200014 | pha002853 | 9.14E-05 | phs000147 | 1.23 | [1.02-1.48] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | FGFR2 | intron | NM_022970 |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | 17529973 | 5.60E-06 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | 19330030 | 2.00E-10 | NA | 1.17 | [1.07-1.27] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2981579-T | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | 20453838 | 4.00E-31 | NA | 1.43 | [1.35-1.53] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2981579-A | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | 23535729 | 2.00E-170 | NA | 1.27 | [1.24-1.29] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2981579-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | 23555315 | 0.0000072 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123337335 | rs2981579 | A | G | rs2981579 | pha002853 | 4.36E-05 | phs000147 | 1.23 | [1.02-1.49] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | FGFR2 | intron | NM_022970 |
| 10 | 123337814 | rs17542768 | A | G | rs17542768 | 17529967 | 1.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | FGFR2 |
| 10 | 123338975 | rs1078806 | A | G | rs1078806 | 23354978 | 2.00E-06 | Pooled P value | 1.43 | NA | 477 Ashkenazi Jewish cases; 524 Ashkenazi Jewish controls | Ashkenazi Jewish(1001) | ALL(1001) | MEA(1001) | ALL(1001) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1078806-C | NA | T | FGFR2 |
| 10 | 123340311 | rs2981578 | C | T | rs2981578 | 17529967 | 1.00E-15 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | FGFR2 |
| 10 | 123340311 | rs2981578 | C | T | rs2981578 | 24143190 | 1.00E-12 | NA | 1.23 | [1.16-1.30] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2981578-C | Research Support, Non-U.S. Gov't | G | FGFR2 |
| 10 | 123342567 | rs4752571 | T | C | rs4752571 | 17529967 | 1.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | FGFR2 |
| 10 | 123346116 | rs2981575 | G | A | rs2981575 | 17529967 | 9.00E-16 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | FGFR2 |
| 10 | 123346116 | rs2981575 | G | A | rs2981575 | 21060860 | 1.00E-08 | NA | 1.28 | [1.18-1.39] | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer in BRCA2 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123346116 | rs2981575 | G | A | rs2981575 | 23555315 | 0.00001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123346116 | rs2981575 | G | A | rs2981575 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | 17529973 | 1.00E-10 | NA | 1.2 | [1.07-1.42] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1219648-G | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | A |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | 20872241 | 2.00E-13 | NA | 1.32 | [1.22-1.42] | 2,702 European ancestry women; 5,726 European ancestry controls | European(8428) | ALL(8428) | EUR(8428) | ALL(8428) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1219648-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | 21263130 | 1.00E-30 | NA | 1.31 | [1.25-1.37] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | 23555315 | 0.000014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | 24143190 | 9.85E-06 | NA | 1.21 | [1.11-1.31] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1219648-C | Research Support, Non-U.S. Gov't | A | FGFR2 |
| 10 | 123346190 | rs1219648 | A | G | rs1219648 | pha002853 | 1.34E-05 | phs000147 | 1.23 | [1.02-1.48] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | FGFR2 | intron | NM_022970 |
| 10 | 123348389 | rs1219642 | T | C | rs1219642 | 17529967 | 3.00E-16 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | FGFR2 |
| 10 | 123348662 | rs2912774 | T | G | rs2912774 | 17529967 | 3.00E-15 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | FGFR2 |
| 10 | 123348662 | rs2912774 | T | G | rs2912774 | 24493630 | 3.00E-27 | NA | 1.29 | [1.23-1.35] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | FGFR2 |
| 10 | 123348902 | rs2936870 | T | C | rs2936870 | 17529967 | 5.00E-15 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | FGFR2 |
| 10 | 123350191 | rs17102287 | T | C | rs17102287 | 17529967 | 1.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | FGFR2 |
| 10 | 123350191 | rs17102287 | T | C | rs17102287 | 24493630 | 3.05E-09 | NA | 1.2 | [1.13-1.28] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | FGFR2 |
| 10 | 123351324 | rs2420946 | T | C | rs2420946 | 17529967 | 5.00E-16 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | FGFR2 |
| 10 | 123351324 | rs2420946 | T | C | rs2420946 | 17529973 | 2.00E-10 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | T |
| 10 | 123351324 | rs2420946 | T | C | rs2420946 | pha002853 | 1.74E-05 | phs000147 | 1.24 | [1.03-1.49] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | FGFR2 | intron | NM_022970 |
| 10 | 123352317 | rs2981582 | A | G | rs2981582 | 17529967 | 2.00E-76 | NA | 1.26 | [1.23-1.30] | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2981582-G | Research Support, Non-U.S. Gov't | C | FGFR2 |
| 10 | 123352317 | rs2981582 | A | G | rs2981582 | 23555315 | 0.000081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 123353869 | rs3135718 | C | T | rs3135718 | 17529967 | 7.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | FGFR2 |
| 10 | 123625190 | rs10510102 | T | C | rs10510102 | 21263130 | 2.00E-06 | NA | 1.12 | [1.07-1.17] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10510102-G | Research Support, Non-U.S. Gov't | Comparative Study |
| 10 | 124219275 | rs3793917 | C | G | rs3793917 | 23555315 | 0.00081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G,C |
| 10 | 125002485 | rs10510126 | C | T | rs10510126 | 17529973 | 7.10E-07 | NA | NA | NA | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 10 | 125002485 | rs10510126 | C | T | rs10510126 | pha002853 | 2.57E-06 | phs000147 | 1.69 | [1.37-2.08] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 10 | 125005193 | rs17663978 | C | T | rs17663978 | pha002853 | 4.84E-05 | phs000147 | 1.61 | [1.28-2.00] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 10 | 125031183 | rs7916600 | C | T | rs7916600 | pha002853 | 1.16E-04 | phs000147 | 1.56 | [1.25-1.96] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 10 | 134261392 | rs148966337 | G | A | rs148966337 | 23555315 | 0.0000076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 284328 | rs142448057 | G | C | rs142448057 | 23555315 | 0.0000043 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 1251368 | rs201500908 | T | A | rs201500908 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 11 | 1909006 | rs3817198 | T | C | rs3817198 | 17529967 | 3.00E-09 | NA | 1.07 | [1.04-1.11] | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3817198-C | Research Support, Non-U.S. Gov't | T | LSP1 |
| 11 | 1909006 | rs3817198 | T | C | rs3817198 | 23535729 | 2.00E-11 | NA | 1.07 | [1.05-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3817198-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 1941946 | rs909116 | T | C | rs909116 | 20453838 | 7.00E-07 | NA | 1.17 | [1.10-1.24] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs909116-T | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 11 | 2021075 | rs2107425 | C | T | rs2107425 | 17529967 | 7.00E-06 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 11 | 2169014 | rs10770125 | A | G | rs10770125 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 8876852 | rs2742552 | C | T | rs2742552 | 23555315 | 0.00075 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 11024584 | rs7928255 | G | A | rs7928255 | 18463975 | 0.000304 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 11 | 11507915 | rs2403515 | T | C | rs2403515 | 17529974 | 3.00E-05 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | T |
| 11 | 12192623 | rs11822285 | C | T | rs11822285 | 21060860 | 6.68E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14442428 | rs7926861 | A | G | rs7926861 | 22228098 | 0.000795 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14444515 | rs4369365 | C | G | rs4369365 | 22228098 | 0.000872 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14450176 | rs4403769 | C | T | rs4403769 | 22228098 | 0.00054 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14453382 | rs7131590 | T | C | rs7131590 | 22228098 | 0.000589 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14453387 | rs7112755 | C | T | rs7112755 | 22228098 | 0.000593 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14466923 | rs2034480 | G | A | rs2034480 | 22228098 | 0.000765 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14471172 | rs2575847 | C | T | rs2575847 | 22228098 | 0.000765 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14472096 | rs2575825 | T | C | rs2575825 | 22228098 | 0.000765 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14472329 | rs2597208 | A | C | rs2597208 | 22228098 | 0.000674 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14472679 | rs2597207 | T | C | rs2597207 | 22228098 | 0.00076 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14475515 | rs2575827 | A | G | rs2575827 | 22228098 | 0.00077 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14476402 | rs2256884 | A | T | rs2256884 | 22228098 | 0.000778 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14477538 | rs2597206 | A | C | rs2597206 | 22228098 | 0.000779 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14484192 | rs2575828 | T | C | rs2575828 | 22228098 | 0.000832 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14485021 | rs2575829 | C | T | rs2575829 | 22228098 | 0.000812 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14485404 | rs2597201 | T | C | rs2597201 | 22228098 | 0.0008 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14485600 | rs2597200 | A | G | rs2597200 | 22228098 | 0.000769 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14485602 | rs2575830 | C | A | rs2575830 | 22228098 | 0.000803 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14486194 | rs2575831 | A | T | rs2575831 | 22228098 | 0.00081 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14488810 | rs2575832 | A | G | rs2575832 | 22228098 | 0.000804 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14489832 | rs2597197 | G | A | rs2597197 | 22228098 | 0.000792 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14491601 | rs2597196 | T | C | rs2597196 | 22228098 | 0.000817 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14494684 | rs2575834 | C | G | rs2575834 | 22228098 | 0.000777 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14496665 | rs2575835 | A | G | rs2575835 | 22228098 | 0.000264 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14497864 | rs2575836 | T | G | rs2575836 | 22228098 | 0.000561 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14498001 | rs2575837 | A | G | rs2575837 | 22228098 | 0.00056 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14498221 | rs2575838 | C | G | rs2575838 | 22228098 | 0.00055 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14501296 | rs2575857 | C | T | rs2575857 | 22228098 | 0.000549 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14507236 | rs2597192 | C | T | rs2597192 | 22228098 | 0.000543 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14507449 | rs2167160 | C | A | rs2167160 | 22228098 | 0.000526 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14508976 | rs2575855 | G | A | rs2575855 | 22228098 | 0.000522 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14510736 | rs2575859 | C | T | rs2575859 | 22228098 | 0.000512 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14514641 | rs2575864 | G | A | rs2575864 | 22228098 | 0.000482 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14516003 | rs10832279 | T | A | rs10832279 | 22228098 | 0.000272 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14516003 | rs565684578 | T | TA | rs10832279 | 22228098 | 0.000272 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14516906 | rs2597188 | G | A | rs2597188 | 22228098 | 0.000479 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14517019 | rs2597187 | C | G | rs2597187 | 22228098 | 0.00048 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14519851 | rs2575822 | C | A | rs2575822 | 22228098 | 0.000475 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14521354 | rs2575823 | C | A | rs2575823 | 22228098 | 0.000468 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14524333 | rs2597184 | G | A | rs2597184 | 22228098 | 0.00044 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14524366 | rs2597183 | T | C | rs2597183 | 22228098 | 0.000429 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14527075 | rs2597221 | C | T | rs2597221 | 22228098 | 0.000455 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14529874 | rs6486197 | C | G | rs6486197 | 22228098 | 0.00045 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14530866 | rs2597219 | C | G | rs2597219 | 22228098 | 0.000449 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14531236 | rs10766183 | T | C | rs10766183 | 22228098 | 0.000416 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14531459 | rs11023245 | T | C | rs11023245 | 22228098 | 0.000448 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14532883 | rs2597217 | A | G | rs2597217 | 22228098 | 0.000512 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14533368 | rs2575852 | G | A | rs2575852 | 22228098 | 0.000493 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14533916 | rs2597216 | G | A | rs2597216 | 22228098 | 0.000491 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14533963 | rs2575853 | T | C | rs2575853 | 22228098 | 0.000454 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14534378 | rs2597215 | A | T | rs2597215 | 22228098 | 0.000489 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14534825 | rs1548074 | A | G | rs1548074 | 22228098 | 0.000488 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14539639 | rs112169102 | T | TA | rs2575849 | 22228098 | 0.000469 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14539639 | rs2575849 | T | A | rs2575849 | 22228098 | 0.000469 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14542577 | rs10766184 | A | G | rs10766184 | 22228098 | 0.000419 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 14547641 | rs2597214 | G | A | rs2597214 | 22228098 | 0.000434 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 14548439 | rs7112765 | C | T | rs7112765 | 22228098 | 0.000393 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14552231 | rs2575840 | T | C | rs2575840 | 22228098 | 0.000455 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C,T |
| 11 | 14552361 | rs2575841 | C | T | rs2575841 | 22228098 | 0.000429 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 14554146 | rs2575842 | G | A | rs2575842 | 22228098 | 0.000502 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 14556342 | rs4463820 | A | G | rs4463820 | 22228098 | 0.000504 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 15062177 | rs6486219 | A | T | rs6486219 | 20852631 | 3.13E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 11 | 16816195 | rs201660932 | G | A | rs201660932 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 11 | 17086632 | rs11024142 | C | T | rs11024142 | 22228098 | 0.000682 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 17089005 | rs11024145 | G | A | rs11024145 | 22228098 | 0.000886 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 17093408 | rs11024146 | C | T | rs11024146 | 22228098 | 0.00068 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 17094121 | rs72632986 | G | A | rs72632986 | 22228098 | 0.000678 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 17095131 | rs10832730 | A | C | rs10832730 | 22228098 | 0.000674 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 17095565 | rs11024147 | T | G | rs11024147 | 22228098 | 0.000825 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 17100265 | rs11024150 | C | G | rs11024150 | 22228098 | 0.000734 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 17105942 | rs146200696 | G | A | rs146200696 | 22228098 | 0.000629 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 17106183 | rs149877011 | C | T | rs149877011 | 22228098 | 0.000607 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 17107816 | rs11024152 | A | G | rs11024152 | 22228098 | 0.000571 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 17110249 | rs11024153 | T | C | rs11024153 | 22228098 | 0.000783 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 17116027 | rs17847728 | T | C | rs17847728 | 22228098 | 0.000793 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 17121089 | rs72632987 | T | A | rs72632987 | 22228098 | 0.000666 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 17126038 | rs6486349 | T | C | rs6486349 | 22228098 | 0.000728 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 17809762 | rs149628273 | T | C | rs149628273 | 23555315 | 0.0006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19256365 | rs201855427 | A | G | rs201855427 | 23555315 | 0.00037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 11 | 19373169 | rs11025105 | C | T | rs11025105 | 22228098 | 0.00045 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19765965 | rs1425228 | T | A,G | rs1425228 | 22228098 | 0.00017 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19765978 | rs1425229 | A | G | rs1425229 | 22228098 | 0.000168 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19766264 | rs1425230 | T | C | rs1425230 | 22228098 | 0.000136 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19766712 | rs7126318 | C | T | rs7126318 | 22228098 | 0.000143 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19767614 | rs4757841 | A | G | rs4757841 | 22228098 | 0.000042 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19768852 | rs12422062 | A | G | rs12422062 | 22228098 | 0.000104 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19885124 | rs11025299 | A | T | rs11025299 | 22228098 | 0.000219 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19904490 | rs12575413 | A | G | rs12575413 | 22228098 | 0.000157 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19908690 | rs2707096 | C | T | rs2707096 | 22228098 | 0.000186 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19912781 | rs2165798 | G | A | rs2165798 | 22228098 | 0.000215 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19939214 | rs4757860 | A | G | rs4757860 | 22228098 | 0.000524 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19939764 | rs2099895 | C | T | rs2099895 | 22228098 | 0.000285 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19939841 | rs11025325 | C | T | rs11025325 | 22228098 | 0.000116 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19940506 | rs11025326 | T | C | rs11025326 | 22228098 | 0.000074 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19940916 | rs716172 | A | T | rs716172 | 22228098 | 0.000255 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19940979 | rs716173 | G | A | rs716173 | 22228098 | 0.000069 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19941378 | rs10833193 | A | G | rs10833193 | 22228098 | 0.000074 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19942683 | rs10833194 | G | T | rs10833194 | 22228098 | 0.00007 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 19943353 | rs10444256 | T | C | rs10444256 | 22228098 | 0.000081 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19944878 | rs4757861 | C | T | rs4757861 | 22228098 | 0.00026 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19945595 | rs7109223 | G | A | rs7109223 | 22228098 | 0.000255 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19945852 | rs10444227 | A | C | rs10444227 | 22228098 | 0.0000064 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19945852 | rs536403196 | A | AC | rs10444227 | 22228098 | 0.0000064 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19945890 | rs7109389 | C | T | rs7109389 | 22228098 | 0.000186 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 19946239 | rs920719 | G | A | rs920719 | 22228098 | 0.0002 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19946348 | rs920720 | G | C | rs920720 | 22228098 | 0.000272 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19947089 | rs7117201 | G | A | rs7117201 | 22228098 | 0.000899 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 19948073 | rs2707081 | G | A | rs2707081 | 22228098 | 0.000767 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19948499 | rs12225529 | G | A | rs12225529 | 22228098 | 0.000128 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 19949536 | rs34249590 | A | G | rs34249590 | 22228098 | 0.000012 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19953442 | rs10833195 | C | T | rs10833195 | 22228098 | 0.000014 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19953492 | rs10833197 | C | A | rs10833197 | 22228098 | 0.000013 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19956131 | rs11025328 | A | G | rs11025328 | 22228098 | 0.000028 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19956289 | rs11025329 | A | G | rs11025329 | 22228098 | 0.000014 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19956593 | rs1372990 | C | T | rs1372990 | 22228098 | 0.000051 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 19956948 | rs10833198 | A | G | rs10833198 | 22228098 | 0.000044 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19957675 | rs11025331 | A | G | rs11025331 | 22228098 | 0.000038 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19957715 | rs11025332 | A | G | rs11025332 | 22228098 | 0.000045 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 19957779 | rs10833200 | T | A | rs10833200 | 22228098 | 0.000046 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 20154539 | rs1348303 | C | T | rs1348303 | 22228098 | 0.000518 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 20156114 | rs11025404 | G | A | rs11025404 | 22228098 | 0.000622 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 20156256 | rs831468 | G | C | rs831468 | 22228098 | 0.00043 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 20158838 | rs10833252 | T | G | rs10833252 | 22228098 | 0.000712 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 20378668 | rs10833310 | A | G | rs10833310 | 22228098 | 0.00011 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 20379276 | rs11025524 | G | A | rs11025524 | 22228098 | 0.000261 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 20382453 | rs4757940 | C | T | rs4757940 | 22228098 | 0.000629 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 20382949 | rs12364576 | T | C | rs12364576 | 22228098 | 0.000536 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 20648364 | rs3740870 | G | C | rs3740870 | 23555315 | 0.00045 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 20648380 | rs1805091 | G | A | rs1805091 | 23555315 | 0.00045 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 21210324 | rs1349819 | T | C | rs1349819 | 22228098 | 0.0009 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 21233869 | rs10833476 | C | T | rs10833476 | 22228098 | 0.000817 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 21259199 | rs1454014 | C | T | rs1454014 | 22228098 | 0.000493 | NA | NA | NA | 1497 Hispanic American cases; 1272 Hispanic American controls | Hispanic American(2769) | ALL(2769) | HIS(2769) | ALL(2769) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 27338689 | rs10835161 | G | T | rs10835161 | 23544013 | 2.22E-04 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 28057897 | rs141828077 | G | A | rs141828077 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 32562808 | rs2450411 | G | A | rs2450411 | pha002853 | 1.32E-04 | phs000147 | 1.03 | [0.85-1.24] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 11 | 36119939 | rs147309219 | A | G | rs147309219 | 23555315 | 0.0000038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 36119939 | rs147309219 | A | G | rs147309219 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 36596427 | rs4151032 | C | T | rs4151032 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 40329199 | rs896617 | A | G | rs896617 | 21060860 | 2.11E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 43911365 | rs2434478 | T | C | rs2434478 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 55563035 | rs75255607 | A | G | rs75255607 | 23555315 | 0.000047 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 57958038 | rs143165965 | C | T | rs143165965 | 23555315 | 0.000064 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 59834583 | rs143965382 | A | C | rs143965382 | 23555315 | 0.00023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 61712131 | rs2727261 | T | C | rs2727261 | 22675492 | 3.00E-06 | NA | 0.16 | [NA] unit increase | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs2727261-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 62381076 | rs146358003 | C | T | rs146358003 | 23555315 | 0.000026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 63987441 | rs75295961 | C | G | rs75295961 | 23555315 | 0.000024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 65583066 | rs3903072 | G | T | rs3903072 | 23535729 | 9.00E-12 | NA | 1.05 | [1.04-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3903072-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 65647737 | rs116206676 | G | A | rs116206676 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 66335308 | rs2242663 | T | C | rs2242663 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 68840399 | rs61746574 | G | A | rs61746574 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 69143284 | rs7102705 | A | G | rs7102705 | 22747683 | 5.00E-06 | NA | 0.09 | [0.049-0.123] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs7102705-A | NA | G | NA |
| 11 | 69307463 | rs612611 | A | G | rs612611 | 20453838 | 1.80E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 11 | 69307695 | rs537626 | G | C | rs537626 | 20453838 | 1.60E-09 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 11 | 69307695 | rs537626 | G | C | rs537626 | 24493630 | 2.00E-15 | NA | 1.29 | [1.21-1.37] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 11 | 69308575 | rs624797 | T | G | rs624797 | 20453838 | 2.10E-07 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 11 | 69311250 | rs662169 | G | A | rs662169 | 20453838 | 4.60E-08 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 11 | 69316881 | rs680618 | T | C | rs680618 | 20453838 | 1.90E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C,T |
| 11 | 69316881 | rs680618 | T | C | rs680618 | 24493630 | 1.04E-10 | NA | 1.2 | [1.14-1.27] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C,T | NA |
| 11 | 69318518 | rs567488 | G | A | rs567488 | 20453838 | 2.50E-06 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 11 | 69318518 | rs567488 | G | A | rs567488 | 24493630 | 3.95E-10 | NA | 1.21 | [1.14-1.29] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 11 | 69328512 | rs17136641 | G | A | rs17136641 | 20453838 | 1.30E-12 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 11 | 69328764 | rs614367 | C | T | rs614367 | 20453838 | 3.00E-15 | NA | 1.15 | [1.10-1.20] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs614367-T | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C,T |
| 11 | 69328764 | rs614367 | C | T | rs614367 | 23535729 | 2.00E-63 | NA | 1.21 | [1.18-1.24] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs614367-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C,T |
| 11 | 69328764 | rs614367 | C | T | rs614367 | 24493630 | 1.00E-08 | NA | 1.34 | NA | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C,T | NA |
| 11 | 69329674 | rs493786 | C | T | rs493786 | 24493630 | 1.23E-08 | NA | 1.16 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 11 | 69330983 | rs661204 | G | A | rs661204 | 20453838 | 4.70E-14 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 11 | 69331642 | rs554219 | C | G | rs554219 | 20453838 | 4.90E-14 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | G |
| 11 | 69332260 | rs559664 | A | G | rs559664 | 24493630 | 1.43E-08 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 11 | 69332670 | rs657686 | A | G | rs657686 | 20453838 | 5.40E-14 | NA | NA | NA | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 11 | 69334307 | rs510754 | A | G | rs510754 | 24493630 | 1.46E-08 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 11 | 74883577 | rs12422149 | G | A | rs12422149 | 23555315 | 0.000053 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 76813968 | rs2233547 | G | A | rs2233547 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 76813968 | rs2233547 | G | A | rs2233547 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 76834837 | rs143494790 | G | A | rs143494790 | 23555315 | 0.00000097 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 76834837 | rs143494790 | G | A | rs143494790 | 23555315 | 0.00037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 81582739 | rs1459952 | T | C | rs1459952 | 18463975 | 0.000332 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 11 | 86188152 | rs1870323 | A | G | rs1870323 | 24025145 | 2.00E-06 | Allelic | 2.92 | [1.87-4.57] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs1870323-T | Research Support, Non-U.S. Gov't | A | ME3 |
| 11 | 87088544 | rs11235127 | G | A | rs11235127 | 17529967 | 5.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | G | NA |
| 11 | 93469892 | rs34591613 | G | C | rs34591613 | 23555315 | 0.00053 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 94697142 | rs7937776 | C | T | rs7937776 | 21060860 | 2.42E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 95428288 | rs2049621 | G | C | rs2049621 | 17529967 | 9.00E-04 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 11 | 97162056 | rs12285889 | A | G | rs12285889 | 20852631 | 9.04E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 11 | 104878019 | rs45585331 | A | C | rs45585331 | 23555315 | 0.0000013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 107427713 | rs116578571 | T | C | rs116578571 | 23555315 | 0.00007 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 107427713 | rs116578571 | T | C | rs116578571 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 107675467 | rs184602466 | C | T | rs184602466 | 23555315 | 0.00079 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 108196896 | rs56009889 | C | T | rs56009889 | 23555315 | 0.00041 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 124409935 | rs948725 | G | A | rs948725 | pha002853 | 2.04E-04 | phs000147 | 1.02 | [0.86-1.22] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 11 | 124440617 | rs12792184 | C | T | rs12792184 | pha002853 | 7.08E-05 | phs000147 | 1.11 | [0.93-1.32] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | OR8A1 | missense | NM_001005194 |
| 11 | 124742934 | rs144055440 | C | A,T | rs144055440 | 23555315 | 0.00018 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 125873102 | rs7104745 | G | A | rs7104745 | 22747683 | 6.00E-06 | NA | 0.07 | [0.039-0.101] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs7104745-G | NA | A | CDON |
| 11 | 126030615 | rs10501858 | G | A | rs10501858 | 23518928 | 1.00E-06 | NA | 1.54 | [1.295-1.829] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 11 | 129461171 | rs11820646 | T | C | rs11820646 | 23535729 | 1.00E-09 | NA | 1.05 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11820646-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 129461171 | rs11820646 | T | C | rs11820646 | 23535733 | 2.30E-04 | NA | 1.06 | [1.03-1.10] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11820646-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 11 | 129473690 | rs7107217 | A | C | rs7107217 | 22383897 | 5.00E-07 | NA | 1.08 | [1.05-1.11] | 2,918 Chinese ancestry cases; 2,324 Chinese ancestry controls | Chinese(5242) | ALL(5242) | ASN(5242) | ALL(5242) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs7107217-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 11 | 130637654 | rs7116050 | G | C | rs7116050 | 21060860 | 1.09E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 130639957 | rs7127732 | C | T | rs7127732 | 21060860 | 2.02E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 131290041 | rs7108536 | G | A | rs7108536 | 22675492 | 1.00E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 131291963 | rs7481514 | A | G | rs7481514 | 22675492 | 1.03E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 131354471 | rs956993 | T | G | rs956993 | 19330027 | 3.40E-04 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 133590335 | rs7927483 | G | A | rs7927483 | 20852631 | 4.26E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 12 | 992587 | rs150532648 | A | G | rs150532648 | 23555315 | 0.00025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 1910786 | rs62621429 | C | T | rs62621429 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 6128454 | rs141211612 | G | A | rs141211612 | 23555315 | 0.000016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 6637845 | rs2072374 | T | C | rs2072374 | 23555315 | 0.00041 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 7528404 | rs150856487 | C | T | rs150856487 | 23555315 | 0.000038 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 9020509 | rs144876785 | C | G | rs144876785 | 23555315 | 0.00022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 9020859 | rs200176373 | A | C,G | rs200176373 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 12 | 9380859 | rs10771431 | G | A | rs10771431 | 22747683 | 2.00E-06 | NA | 0.07 | [0.042-0.104] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs10771431-A | NA | A,G | NA |
| 12 | 10277906 | rs59819090 | G | A | rs59819090 | 23555315 | 0.000042 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 12815037 | rs41276680 | C | T | rs41276680 | 23555315 | 0.000019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 13102576 | rs149059133 | G | A | rs149059133 | 23555315 | 0.00071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 14410485 | rs17221259 | T | C | rs17221259 | 24143190 | 7.00E-06 | NA | 1.25 | [1.14-1.38] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17221259-G | Research Support, Non-U.S. Gov't | T | NA |
| 12 | 14413931 | rs12422552 | G | C | rs12422552 | 23535729 | 4.00E-08 | NA | 1.05 | [1.03-1.07] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs12422552-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 14993439 | rs11276 | C | T | rs11276 | 23555315 | 0.00044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 15035081 | rs4236 | T | C | rs4236 | 23555315 | 0.00046 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 15734702 | rs144347297 | C | A,T | rs144347297 | 23555315 | 0.0000003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 15734702 | rs144347297 | C | A,T | rs144347297 | 23555315 | 0.000029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 20062497 | rs1586840 | G | A | rs1586840 | 20852631 | 6.45E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 12 | 21331549 | rs4149056 | T | C | rs4149056 | 22829776 | 2.00E-08 | Men + Women | 0.03 | [0.019-0.039] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs4149056-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 12 | 23946146 | rs11047102 | C | T | rs11047102 | 23555315 | 0.000036 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 28083196 | rs7313833 | G | A | rs7313833 | 17529967 | 6.00E-06 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | NA |
| 12 | 28155080 | rs10771399 | A | G | rs10771399 | 23535729 | 8.00E-31 | NA | 1.16 | [1.14-1.20] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10771399-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 28155080 | rs10771399 | A | G | rs10771399 | 23535733 | 2.00E-12 | NA | 1.2 | [1.15-1.27] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10771399-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 28155080 | rs10771399 | A | G | rs10771399 | 23544013 | 8.00E-06 | NA | 1.18 | [1.10-1.27] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs10771399-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 28155080 | rs10771399 | A | G | rs10771399 | 24325915 | 2.00E-08 | NA | 1.39 | [1.25-1.56] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10771399-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 28156081 | rs12371778 | C | G | rs12371778 | 22747683 | 1.00E-08 | NA | 0.16 | [0.11-0.22] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs12371778-G | NA | T | NA |
| 12 | 28165457 | rs2619434 | G | A | rs2619434 | 24325915 | 1.00E-05 | NA | 1.19 | [1.10-1.30] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 30906358 | rs17688567 | G | A | rs17688567 | 23555315 | 0.00039 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 32792974 | rs10771973 | G | A | rs10771973 | 20852631 | 2.28E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 12 | 41545725 | rs2567034 | A | G | rs2567034 | 18463975 | 0.000271 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 41546220 | rs281840 | C | T | rs281840 | 18463975 | 0.000204 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 41580177 | rs6582240 | A | T | rs6582240 | 18463975 | 0.000204 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 41602355 | rs2043134 | A | G | rs2043134 | 18463975 | 0.000118 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 42481732 | rs7972986 | G | A | rs7972986 | 23555315 | 0.00014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 42863262 | rs34837068 | A | G | rs34837068 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 44130330 | rs116948464 | G | A | rs116948464 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 47949145 | rs12304191 | G | A | rs12304191 | 21060860 | 1.81E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 51457921 | rs142643949 | T | C | rs142643949 | 23555315 | 0.00002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 52938320 | rs2292506 | C | T | rs2292506 | 23555315 | 0.000033 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 55140402 | rs2198600 | C | T | rs2198600 | 20852631 | 4.14E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 12 | 55641811 | rs79165229 | C | T | rs79165229 | 23555315 | 0.00089 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 56998559 | rs201075316 | C | T | rs201075316 | 23555315 | 0.0000071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 12 | 65810174 | rs1494505 | T | C | rs1494505 | 23555315 | 0.00071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 69113390 | rs142470451 | T | C | rs142470451 | 23555315 | 0.000046 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 73989837 | rs1154865 | C | G | rs1154865 | 17903305 | 7.00E-07 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | C | NA |
| 12 | 94532765 | rs11613298 | G | A | rs11613298 | 23468962 | 5.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 12 | 94683204 | rs4761470 | G | A | rs4761470 | 23518928 | 6.00E-07 | NA | 1.38 | [1.214-1.556] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 12 | 94683204 | rs575315089 | G | GT | rs4761470 | 23518928 | 6.00E-07 | NA | 1.38 | [1.214-1.556] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 12 | 94801321 | rs11107531 | C | T | rs11107531 | 23518928 | 8.31E-07 | NA | 1.33 | [1.187-1.485] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 12 | 96027759 | rs17356907 | A | G | rs17356907 | 22747683 | 1.00E-06 | NA | 0.08 | [0.048-0.114] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs17356907-G | NA | A | NA |
| 12 | 96027759 | rs17356907 | A | G | rs17356907 | 23535729 | 2.00E-22 | NA | 1.1 | [1.08-1.12] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17356907-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 96027759 | rs17356907 | A | G | rs17356907 | 23535733 | 9.00E-06 | NA | 1.09 | [1.04-1.12] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17356907-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 96907972 | rs7308077 | C | T | rs7308077 | 20852631 | 6.05E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 12 | 97879744 | rs10507088 | G | A | rs10507088 | 20852631 | 5.12E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 12 | 100042040 | rs11109968 | C | G | rs11109968 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 100042163 | rs11109969 | A | G | rs11109969 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 101738482 | rs117417637 | G | A | rs117417637 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 104262070 | rs9669708 | T | G | rs9669708 | 22675492 | 1.19E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 104291595 | rs2243680 | G | A | rs2243680 | 18463975 | 0.000294 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 104979879 | rs1626044 | G | A | rs1626044 | 18463975 | 0.000398 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 104980310 | rs1650137 | G | A | rs1650137 | 18463975 | 0.000398 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 12 | 109937534 | rs7298565 | G | A | rs7298565 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 109994870 | rs9593 | A | T | rs9593 | 23555315 | 0.000049 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 109994870 | rs9593 | A | T | rs9593 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 12 | 110000193 | rs7134594 | C | T | rs7134594 | 23555315 | 0.000069 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 110000193 | rs7134594 | C | T | rs7134594 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 113603678 | rs35080925 | G | A | rs35080925 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 12 | 115836522 | rs1292011 | A | G | rs1292011 | 23535729 | 9.00E-22 | NA | 1.09 | [1.06-1.11] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1292011-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 121177159 | rs28940872 | C | T | rs28940872 | 23555315 | 0.0000071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 121592689 | rs17525809 | T | C | rs17525809 | 23555315 | 0.00073 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 124092004 | rs80215100 | C | T | rs80215100 | 23555315 | 0.00022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 12 | 125825114 | rs7134868 | G | A | rs7134868 | pha002853 | 1.12E-04 | phs000147 | 1.16 | [0.98-1.38] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | TMEM132B | intron | NM_052907 |
| 12 | 126940768 | rs11058659 | C | T | rs11058659 | 23555315 | 0.00052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 12 | 128758519 | rs11059618 | T | C | rs11059618 | 24025145 | 1.18E-06 | Dominant | 4.58 | [2.32-9.07] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs11059618-A | Research Support, Non-U.S. Gov't | C | TMEM132C |
| 12 | 128767084 | rs10773519 | A | G | rs10773519 | 24025145 | 8.41E-06 | Dominant | 3.63 | [1.98-6.66] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10773519-A | Research Support, Non-U.S. Gov't | G | TMEM132C |
| 12 | 128782022 | rs11059635 | C | T | rs11059635 | 24025145 | 2.00E-07 | Dominant | 6.63 | [2.95-14.90] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs11059635-G | Research Support, Non-U.S. Gov't | C | TMEM132C |
| 12 | 132322812 | rs143543400 | C | A | rs143543400 | 23555315 | 0.000011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 13 | 29164731 | rs9578047 | T | C | rs9578047 | 24080446 | 7.90E-06 | NA | 1.2 | [1.11-1.32] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 13 | 29164783 | rs9579199 | G | A | rs9579199 | 24080446 | 8.00E-06 | NA | 1.2 | [1.11-1.32] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 13 | 31314455 | rs3885907 | C | A | rs3885907 | 24025145 | 1.00E-06 | Dominant | 2.66 | [1.71-4.13] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs3885907-G | Research Support, Non-U.S. Gov't | A | ALOX5AP |
| 13 | 31316738 | rs10162089 | G | A | rs10162089 | 24025145 | 2.66E-06 | Dominant | 2.51 | [1.62-3.91] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs10162089-T | Research Support, Non-U.S. Gov't | G | ALOX5AP |
| 13 | 31323342 | rs4075692 | A | G | rs4075692 | 24025145 | 7.48E-06 | Dominant | 2.59 | [1.62-4.13] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4075692-A | Research Support, Non-U.S. Gov't | A | ALOX5AP |
| 13 | 31324253 | rs9671124 | T | C | rs9671124 | 24025145 | 7.48E-06 | Dominant | 2.59 | [1.62-4.13] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs9671124-T | Research Support, Non-U.S. Gov't | C | ALOX5AP |
| 13 | 31334698 | rs9508835 | C | A | rs9508835 | 24025145 | 1.52E-06 | Dominant | 2.9 | [1.78-4.72] | 116 Japanese ancestry cases; 108 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs9508835-T | Research Support, Non-U.S. Gov't | C | ALOX5AP |
| 13 | 32972626 | rs11571833 | A | T | rs11571833 | 23535729 | 5.00E-08 | NA | 1.26 | [1.14-1.39] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11571833-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 13 | 32972626 | rs11571833 | A | T | rs11571833 | 23535733 | 6.00E-06 | NA | 1.52 | [1.31-1.77] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs11571833-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 13 | 33592777 | rs575536 | T | C | rs575536 | 21060860 | 1.36E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 13 | 36531548 | rs34065801 | T | C | rs34065801 | 22747683 | 6.00E-06 | NA | 0.1 | [0.055-0.137] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs34065801-C | NA | T | DCLK1 |
| 13 | 55688246 | rs12872043 | G | A | rs12872043 | pha002853 | 1.23E-04 | phs000147 | 1.33 | [1.11-1.59] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 13 | 59953466 | rs12585963 | G | A | rs12585963 | 22747683 | 2.00E-06 | NA | 0.08 | [0.047-0.113] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs12585963-A | NA | A | NA |
| 13 | 60475853 | rs11616749 | G | A | rs11616749 | 23544013 | 1.27E-05 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 60475853 | rs11616749 | G | A | rs11616749 | 23544013 | 5.15E-04 | Breast Cancer ER-negative in BRCA1 carriers | 1.12 | [1.05-1.19] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 60475853 | rs11616749 | G | A | rs11616749 | 23544013 | 5.94E-04 | BRCA1 mutation class I | 1.29 | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs11616749-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 81006871 | rs558366 | C | T | rs558366 | 22452962 | 2.50E-04 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 13 | 81161299 | rs7317238 | T | G | rs7317238 | 21060860 | 1.75E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 13 | 82117532 | rs1953290 | T | C | rs1953290 | 22452962 | 4.80E-08 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 13 | 93581791 | rs9523848 | G | T | rs9523848 | 22747683 | 3.00E-06 | NA | 0.08 | [0.048-0.114] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs9523848-T | NA | T | NA |
| 13 | 95611364 | rs7990574 | A | G | rs7990574 | 20852631 | 9.72E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 13 | 95874956 | rs1926657 | T | C | rs1926657 | 17903305 | 2.00E-06 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | C | ABCC4 |
| 13 | 95899303 | rs11568689 | G | C | rs11568689 | 23555315 | 0.000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 13 | 105716018 | rs12428682 | A | G | rs12428682 | pha002853 | 1.65E-04 | phs000147 | 1.47 | [1.23-1.77] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 13 | 105716407 | rs9586708 | G | A | rs9586708 | pha002853 | 1.74E-04 | phs000147 | 1.48 | [1.23-1.77] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 13 | 105717663 | rs7139453 | A | G | rs7139453 | pha002853 | 1.34E-04 | phs000147 | 1.48 | [1.23-1.77] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 13 | 105718642 | rs4632004 | C | A | rs4632004 | pha002853 | 1.30E-04 | phs000147 | 1.48 | [1.23-1.78] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 13 | 111294796 | rs146355429 | C | T | rs146355429 | 23555315 | 0.000079 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 13 | 113669159 | rs149468042 | C | T | rs149468042 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 14 | 22736298 | rs6572351 | C | T | rs6572351 | 17529974 | 2.50E-05 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | T |
| 14 | 23000062 | rs227003 | T | C | rs227003 | 18463975 | 0.0000381 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 14 | 23511579 | rs34457782 | G | A | rs34457782 | 23555315 | 0.00081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 24792132 | rs74387312 | A | G | rs74387312 | 23555315 | 0.0000029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 14 | 24792132 | rs74387312 | A | G | rs74387312 | 23555315 | 0.000099 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 14 | 25882546 | rs4983089 | G | A | rs4983089 | 18463975 | 0.000149 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 14 | 27984523 | rs8018341 | G | A | rs8018341 | 23555315 | 0.00082 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 14 | 33552734 | rs8014514 | T | C | rs8014514 | pha002853 | 1.79E-04 | phs000147 | 1.4 | [1.17-1.66] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T,C | NPAS3 | intron | NM_022123 |
| 14 | 34162510 | rs9322925 | T | C | rs9322925 | 18463975 | 0.000236 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 14 | 37132769 | rs2236007 | G | A | rs2236007 | 23535729 | 2.00E-13 | NA | 1.08 | [1.05-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2236007-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 37371724 | rs848694 | C | T | rs848694 | 24080446 | 4.60E-05 | NA | 1.2 | [1.11-1.32] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 37407036 | rs7148646 | A | G | rs7148646 | 24080446 | 1.20E-05 | NA | 1.2 | [1.11-1.32] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 39587798 | rs139047393 | A | T | rs139047393 | 23555315 | 0.0006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 14 | 41382795 | rs1987295 | C | T | rs1987295 | 18463975 | 0.000179 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 14 | 44256254 | rs1951342 | A | G | rs1951342 | 18463975 | 0.000378 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 14 | 54228517 | rs1958654 | T | C | rs1958654 | 23544013 | 3.24E-05 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 54228517 | rs1958654 | T | C | rs1958654 | 23544013 | 9.96E-06 | Breast Cancer ER-negative in BRCA1 carriers | 1.19 | [1.10-1.28] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 57749700 | rs10140245 | A | C | rs10140245 | 23555315 | 0.00054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 14 | 62551085 | rs74675259 | G | A | rs74675259 | 23555315 | 0.00087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 62968395 | rs4902141 | T | C | rs4902141 | 23518928 | 1.00E-07 | NA | 2.16 | [1.629-2.867] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 14 | 63123007 | rs1953248 | T | C | rs1953248 | 23518928 | 1.25E-06 | NA | 1.61 | [1.331-1.953] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 14 | 65053999 | rs45482504 | T | C | rs45482504 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 14 | 68614441 | rs2588827 | C | T | rs2588827 | 23001122 | 2.40E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68628680 | rs2588819 | T | C | rs2588819 | 23001122 | 2.85E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68630578 | rs2588818 | A | G | rs2588818 | 23001122 | 3.97E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68631812 | rs1952246 | G | A | rs1952246 | 23001122 | 2.47E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68633413 | rs2243905 | G | A | rs2243905 | 23001122 | 3.81E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68636711 | rs2767384 | G | T | rs2767384 | 23001122 | 3.68E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68637665 | rs1958115 | C | A | rs1958115 | 23001122 | 2.46E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68637906 | rs1958113 | A | G,T | rs1958113 | 23001122 | 4.08E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68643798 | rs2588814 | G | A | rs2588814 | 23001122 | 2.40E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68644046 | rs2767382 | A | G | rs2767382 | 23001122 | 1.75E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68649776 | rs2038979 | G | A | rs2038979 | 23001122 | 2.34E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68660181 | rs2588808 | A | G | rs2588808 | 23001122 | 3.11E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68660428 | rs2588809 | T | C | rs2588809 | 23001122 | 3.56E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68660428 | rs2588809 | T | C | rs2588809 | 23535729 | 1.00E-10 | NA | 1.08 | [1.05-1.11] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2588809-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 14 | 68663266 | rs2767378 | T | C | rs2767378 | 23001122 | 2.45E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68663437 | rs2255767 | A | G | rs2255767 | 23001122 | 2.68E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68666722 | rs1274638 | T | C | rs1274638 | 23001122 | 2.70E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68668499 | rs1274639 | C | A | rs1274639 | 23001122 | 1.48E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68668528 | rs1274640 | C | T | rs1274640 | 23001122 | 3.75E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68671723 | rs1028842 | C | A | rs1028842 | 23001122 | 1.47E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68672703 | rs1274642 | G | A | rs1274642 | 23001122 | 1.66E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68673079 | rs1274643 | T | C | rs1274643 | 23001122 | 3.13E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68673117 | rs1274644 | G | A | rs1274644 | 23001122 | 1.66E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68673326 | rs1274645 | G | A | rs1274645 | 23001122 | 1.66E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68673389 | rs1274646 | G | A | rs1274646 | 23001122 | 1.66E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68673844 | rs1274647 | T | C | rs1274647 | 23001122 | 1.70E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68673885 | rs1274648 | T | C | rs1274648 | 23001122 | 3.14E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68674300 | rs1274649 | T | G | rs1274649 | 23001122 | 1.66E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68675858 | rs725453 | C | T | rs725453 | 23001122 | 3.14E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68676173 | rs1274650 | G | A | rs1274650 | 23001122 | 1.64E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68676418 | rs1274651 | C | T | rs1274651 | 23001122 | 1.64E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68676520 | rs1274652 | C | G | rs1274652 | 23001122 | 3.24E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68677492 | rs1298340 | G | C | rs1298340 | 23001122 | 3.18E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68677978 | rs1274655 | G | C | rs1274655 | 23001122 | 3.18E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68678632 | rs1295780 | C | T | rs1295780 | 23001122 | 1.63E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68679481 | rs1274656 | G | A | rs1274656 | 23001122 | 3.18E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68679715 | rs1274657 | C | G | rs1274657 | 23001122 | 1.63E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68680007 | rs1274658 | G | A | rs1274658 | 23001122 | 1.63E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68680649 | rs1274659 | C | G | rs1274659 | 23001122 | 1.63E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68681476 | rs1744947 | C | T | rs1744947 | 23001122 | 1.63E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68685460 | rs1296527 | T | C | rs1296527 | 23001122 | 3.18E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68686394 | rs1744949 | C | T | rs1744949 | 23001122 | 1.59E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68688639 | rs117351774 | T | C | rs117351774 | 23001122 | 1.60E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68688702 | rs116264287 | C | T | rs116264287 | 23001122 | 1.60E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68689219 | rs1274661 | G | A | rs1274661 | 23001122 | 1.60E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68689813 | rs1290939 | C | G | rs1290939 | 23001122 | 1.96E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68690442 | rs1295782 | C | T | rs1295782 | 23001122 | 1.60E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68692650 | rs1751382 | C | T | rs1751382 | 23001122 | 2.14E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68698372 | rs1314912 | G | A | rs1314912 | 23001122 | 1.83E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68698472 | rs1316170 | A | C | rs1316170 | 23001122 | 3.58E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68699370 | rs1316014 | T | G | rs1316014 | 23001122 | 1.84E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68699594 | rs1314913 | C | T | rs1314913 | 23001122 | 3.00E-13 | NA | 1.57 | [1.39-1.77] | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68700097 | rs1316118 | T | C | rs1316118 | 23001122 | 4.00E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68703076 | rs1314914 | C | T | rs1314914 | 23001122 | 3.90E-10 | NA | NA | NA | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 68749927 | rs3784099 | G | A | rs3784099 | 22232737 | 1.00E-07 | Total Mortality | 1.49 | [1.28-1.72] | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | rs3784099-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 14 | 68749927 | rs3784099 | G | A | rs3784099 | 22232737 | 3.00E-07 | Recurrence | 1.43 | [1.25-1.64] | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | rs3784099-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 14 | 68963746 | rs765899 | C | T | rs765899 | 23468962 | 2.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 14 | 69034682 | rs999737 | C | T | rs999737 | 19330030 | 2.00E-07 | NA | 1.06 | [1.01-1.14] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs999737-C | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 14 | 69034682 | rs999737 | C | T | rs999737 | 23535729 | 3.00E-19 | NA | 1.09 | [1.06-1.11] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs999737-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 14 | 73260377 | rs12435382 | G | A | rs12435382 | pha002853 | 1.24E-04 | phs000147 | 1.22 | [1.01-1.47] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | DPF3 | intron | NM_012074 |
| 14 | 73260475 | rs12435412 | G | A | rs12435412 | pha002853 | 1.27E-04 | phs000147 | 1.22 | [1.01-1.47] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | DPF3 | intron | NM_012074 |
| 14 | 75386576 | rs2286913 | G | A | rs2286913 | 23555315 | 0.00057 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 88295600 | rs4322600 | A | G | rs4322600 | 22923054 | 4.00E-06 | NA | 1.18 | [1.10-1.27] | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4322600-G | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 14 | 89178711 | rs201948547 | T | C | rs201948547 | 23555315 | 0.000042 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 14 | 91841069 | rs941764 | A | G | rs941764 | 23535729 | 4.00E-10 | NA | 1.06 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs941764-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 92460176 | rs137974620 | C | G | rs137974620 | 23555315 | 0.00016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 14 | 93102251 | rs17184313 | C | T | rs17184313 | 19330027 | 7.00E-05 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 94417531 | rs11555542 | T | C | rs11555542 | 23555315 | 0.00075 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 14 | 94554550 | rs998518 | T | G | rs998518 | 21060860 | 1.16E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 14 | 94796184 | rs61280460 | A | T | rs61280460 | 22747683 | 8.00E-07 | NA | 0.1 | [0.058-0.132] cup size decrease | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs61280460-T | NA | A | NA |
| 14 | 99413672 | rs807339 | C | G | rs807339 | 21060860 | 1.90E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 99863065 | rs2295697 | C | T | rs2295697 | 23555315 | 0.00043 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 14 | 101348572 | rs112608318 | C | T | rs112608318 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 14 | 104092789 | rs729438 | G | A | rs729438 | 22232737 | 5.80E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | T,G |
| 15 | 23889873 | rs138628273 | G | C | rs138628273 | 23555315 | 0.000029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 15 | 25917966 | rs2930629 | G | A | rs2930629 | pha002853 | 5.39E-05 | phs000147 | 1.06 | [0.88-1.27] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 15 | 33339826 | rs343908 | G | A | rs343908 | 20852631 | 4.26E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 15 | 39844315 | rs2618157 | G | A | rs2618157 | 23555315 | 0.000067 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 39881431 | rs201454661 | A | G | rs201454661 | 23555315 | 0.000039 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 15 | 39881431 | rs201454661 | A | G | rs201454661 | 23555315 | 0.000062 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 15 | 45401034 | rs139786814 | C | T | rs139786814 | 23555315 | 0.0002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 45434309 | rs150683309 | G | A | rs150683309 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 48734008 | rs113577372 | C | A | rs113577372 | 23555315 | 0.0000027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 48900586 | rs1876206 | T | C | rs1876206 | 17903305 | 6.00E-06 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | A | FBN1 |
| 15 | 49059638 | rs199690309 | G | A | rs199690309 | 23555315 | 0.000089 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 15 | 50593003 | rs141883945 | T | C | rs141883945 | 23555315 | 0.0000059 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 50773787 | rs3743044 | A | G | rs3743044 | 23555315 | 0.00079 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 15 | 50904954 | rs150072757 | T | C | rs150072757 | 23555315 | 0.000051 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 50904954 | rs150072757 | T | C | rs150072757 | 23555315 | 0.000078 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 51513729 | rs6493487 | G | A | rs6493487 | 22675492 | 7.90E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 15 | 51517100 | rs12595627 | T | C | rs12595627 | 22675492 | 7.00E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 51519276 | rs4775935 | T | G | rs4775935 | 22675492 | 8.00E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 51524292 | rs2414095 | A | G | rs2414095 | 22675492 | 7.40E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 51525173 | rs12592697 | T | C | rs12592697 | 22675492 | 7.20E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 51529835 | rs2414097 | G | A | rs2414097 | 22675492 | 6.40E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 15 | 51530097 | rs17703883 | T | C | rs17703883 | 22675492 | 5.10E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 51534055 | rs7175531 | T | C | rs7175531 | 22675492 | 5.00E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 51534547 | rs727479 | C | A | rs727479 | 22675492 | 5.00E-07 | NA | 0.11 | [NA] unit decrease | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs727479-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 51553909 | rs17601876 | A | G | rs17601876 | 22675492 | 6.80E-04 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 51569410 | rs2305707 | A | G | rs2305707 | 23555315 | 0.00081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 15 | 51763587 | rs140921435 | G | A | rs140921435 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 54305612 | rs137929834 | G | A | rs137929834 | 23555315 | 0.000062 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 55193334 | rs4774725 | T | A | rs4774725 | 18463975 | 0.000212 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 15 | 56032665 | rs185716584 | C | G | rs185716584 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 59009800 | rs144893047 | C | T | rs144893047 | 23555315 | 1.30E-09 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 61702779 | rs3884558 | A | G | rs3884558 | 23319801 | 4.00E-06 | NA | 1.46 | [1.24-1.72] | 536 early-onset cases | NOPOP(536) | ALL(536) | NOPOP(536) | ALL(536) | Breast cancer (prognosis) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | NA |
| 15 | 61987998 | rs2243431 | T | C | rs2243431 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 15 | 64792042 | rs151216141 | G | T | rs151216141 | 23555315 | 0.000046 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 65777205 | rs352457 | G | A | rs352457 | 20332263 | 1.82E-05 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 71786905 | rs7181587 | C | T | rs7181587 | pha002853 | 1.25E-04 | phs000147 | 1.23 | [1.03-1.47] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | THSD4 | intron | NM_024817 |
| 15 | 78269472 | rs12906542 | A | G | rs12906542 | 23354978 | 7.00E-07 | Meta P value | 2 | NA | 477 Ashkenazi Jewish cases; 524 Ashkenazi Jewish controls | Ashkenazi Jewish(1001) | ALL(1001) | MEA(1001) | ALL(1001) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA |
| 15 | 79277486 | rs116883402 | C | T | rs116883402 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 84704349 | rs17299684 | A | G | rs17299684 | 20332263 | 3.25E-05 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 86462852 | rs4262906 | T | C | rs4262906 | 24025145 | 3.00E-06 | Allelic | 2.5 | [1.71-3.67] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4262906-C | Research Support, Non-U.S. Gov't | C | NA |
| 15 | 86462852 | rs4262906 | T | C | rs4262906 | 24025145 | 7.00E-07 | Allelic | 4.36 | [2.41-7.89] | 62 Japanese ancestry cases; 42 Japanese ancestry controls | Japanese(104) | ALL(104) | ASN(104) | ALL(104) | Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4262906-C | Research Support, Non-U.S. Gov't | C | NA |
| 15 | 89169738 | rs147477549 | G | A | rs147477549 | 23555315 | 0.00021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 89803950 | rs62020347 | C | T | rs62020347 | 23555315 | 0.00000018 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 91326099 | rs2227935 | C | T | rs2227935 | 23555315 | 0.000054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 15 | 91354521 | rs7167216 | G | A | rs7167216 | 23555315 | 0.000051 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 15 | 91428327 | rs28510611 | C | A | rs28510611 | 23555315 | 0.000094 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 91525048 | rs142416384 | C | G | rs142416384 | 23555315 | 0.000021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 15 | 92301298 | rs11631761 | G | A | rs11631761 | 23555315 | 0.0007 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 15 | 93742047 | rs4777792 | C | T | rs4777792 | 19330027 | 3.30E-04 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 96582997 | rs16976004 | C | G | rs16976004 | 18463975 | 0.000151 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 15 | 96708291 | rs8023580 | T | C | rs8023580 | 22829776 | 5.00E-06 | Men | 0.03 | [0.014-0.036] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs8023580-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 15 | 96708291 | rs8023580 | T | C | rs8023580 | 22829776 | 8.00E-08 | Women | 0.04 | [0.024-0.052] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs8023580-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 15 | 96708291 | rs8023580 | T | C | rs8023580 | 22829776 | 8.00E-12 | Men + Women | 0.03 | [0.021-0.039] umol/L decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs8023580-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 16 | 839269 | rs77682584 | G | A | rs77682584 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 840599 | rs59706474 | C | T | rs59706474 | 23555315 | 0.0000071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 847033 | rs80165523 | C | G | rs80165523 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 1536455 | rs141845288 | C | T | rs141845288 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 1634241 | rs139619013 | T | C | rs139619013 | 23555315 | 0.000086 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 1634241 | rs139619013 | T | C | rs139619013 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 1706275 | rs200270407 | C | T | rs200270407 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 16 | 1706275 | rs200270407 | C | T | rs200270407 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 16 | 2999218 | rs734138 | C | T | rs734138 | 20852631 | 4.29E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 16 | 3627358 | rs758747 | C | T | rs758747 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 3639827 | rs3810813 | G | A | rs3810813 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 3642817 | rs146901714 | C | T | rs146901714 | 23555315 | 0.00006 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 7153692 | rs1318703 | C | T | rs1318703 | 17529967 | 3.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | RBFOX1 |
| 16 | 8859997 | rs12448959 | G | C | rs12448959 | 21060860 | 1.62E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 11199678 | rs998592 | C | T | rs998592 | pha002853 | 1.38E-04 | phs000147 | 1.4 | [1.16-1.68] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | CLEC16A | intron | NM_015226 |
| 16 | 13438884 | rs7200108 | T | C | rs7200108 | 22258532 | 0.0006 | NA | NA | NA | 302 Caucasian cases; 321 Caucasian controls | Caucasian(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 16 | 19244424 | rs6497337 | A | G | rs6497337 | pha002853 | 2.12E-05 | phs000147 | 1.1 | [0.92-1.30] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | SYT17 | intron | NM_016524 |
| 16 | 19471571 | rs36019638 | G | A | rs36019638 | 23555315 | 0.00021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 20681229 | rs61745764 | T | A | rs61745764 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 20681229 | rs61745764 | T | A | rs61745764 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 28508506 | rs200288763 | C | T | rs200288763 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 16 | 30795481 | rs199766404 | C | G | rs199766404 | 23555315 | 0.000013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 16 | 52534167 | rs8051542 | T | C | rs8051542 | 17529967 | 1.00E-12 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | TOX3 |
| 16 | 52535810 | rs4784220 | T | C | rs4784220 | 24493630 | 1.52E-12 | NA | 1.21 | [1.14-1.27] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | T | TOX3 |
| 16 | 52539597 | rs9933638 | A | G | rs9933638 | 24493630 | 6.85E-10 | NA | 1.16 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | TOX3 |
| 16 | 52548037 | rs12443621 | A | G | rs12443621 | 17529967 | 2.00E-19 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | TOX3 |
| 16 | 52555742 | rs8046979 | A | G | rs8046979 | 24493630 | 2.68E-10 | NA | 1.16 | [1.11-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | TOX3 |
| 16 | 52563626 | rs1420533 | G | A | rs1420533 | 24493630 | 9.23E-10 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | TOX3 |
| 16 | 52566454 | rs2193094 | T | G | rs2193094 | 24493630 | 9.09E-10 | NA | 1.15 | [1.10-1.21] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | TOX3 |
| 16 | 52572832 | rs9931232 | G | A | rs9931232 | 24493630 | 1.21E-09 | NA | 1.15 | [1.10-1.22] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | G | TOX3 |
| 16 | 52575907 | rs4784223 | A | G | rs4784223 | 24493630 | 6.00E-21 | NA | 1.27 | [1.21-1.34] | 3,523 European ancestry young female cases; 2,702 European ancestry young female controls | European(6225) | ALL(6225) | EUR(6225) | ALL(6225) | Breast cancer (early onset) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | A | TOX3 |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 17529967 | 1.00E-36 | NA | 1.2 | [1.16-1.24] | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-C | Research Support, Non-U.S. Gov't | C | NA |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 17529974 | 6.00E-19 | NA | 1.28 | [1.21-1.35] | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-T | Research Support, Non-U.S. Gov't | Comparative Study | C |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 19330030 | 1.00E-09 | NA | 1.16 | [1.07-1.27] | 1,145 cases; 1,142 controls | NOPOP(2287) | ALL(2287) | NOPOP(2287) | ALL(2287) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-T | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | C |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 20453838 | 3.00E-15 | NA | 1.3 | [1.22-1.39] | 3,659 UK cases; 4,897 UK controls | UK(8556) | ALL(8556) | EUR(8556) | ALL(8556) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-A | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. | C |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 20872241 | 4.00E-07 | NA | 1.22 | [1.13-1.32] | 2,702 European ancestry women; 5,726 European ancestry controls | European(8428) | ALL(8428) | EUR(8428) | ALL(8428) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 22452962 | 3.40E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NA |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 23001122 | 4.00E-15 | NA | 1.5 | [1.35-1.66] | 823 European ancestry cases; 2,795 European ancestry controls | European(3618) | ALL(3618) | EUR(3618) | ALL(3618) | Breast cancer (male) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D018567 | Breast Neoplasms, Male | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 23535729 | 2.00E-114 | NA | 1.24 | [1.21-1.27] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 23535733 | 6.00E-13 | NA | 1.14 | [1.10-1.18] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 52586341 | rs3803662 | A | G | rs3803662 | 24143190 | 3.00E-11 | NA | 1.21 | [1.15-1.28] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3803662-T | Research Support, Non-U.S. Gov't | C | NA |
| 16 | 52599188 | rs4784227 | C | T | rs4784227 | 20585626 | 1.00E-28 | all races combined | 1.24 | [1.20-1.29] | 2,073 Chinese ancestry cases; 2,084 Chinese ancestry controls | Chinese(4157) | ALL(4157) | ASN(4157) | ALL(4157) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4784227-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 52599188 | rs4784227 | C | T | rs4784227 | 23555315 | 3.90E-09 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 52599188 | rs4784227 | C | T | rs4784227 | 23555315 | 6.00E-11 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 52635000 | rs12922061 | C | T | rs12922061 | 24143190 | 4.00E-10 | NA | 1.23 | [1.15-1.31] | 2,642 Japanese ancestry cases; 2,099 Japaneses ancestry controls | Japanese(4741) | ALL(4741) | ASN(4741) | ALL(4741) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs12922061-T | Research Support, Non-U.S. Gov't | C | LOC643714 |
| 16 | 52635164 | rs3112612 | G | A | rs3112612 | 21263130 | 4.00E-10 | NA | 1.15 | [1.10-1.21] | 1,694 British cases; 2,365 British controls; 1,145 European ancestry cases; 1,142 European ancestry controls | British(4059) | European(2287) | ALL(6346) | EUR(6346) | ALL(6346) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3112612-T | Research Support, Non-U.S. Gov't | Comparative Study |
| 16 | 53813367 | rs17817449 | T | G | rs17817449 | 23535729 | 6.00E-14 | NA | 1.08 | [1.05-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17817449-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 53813367 | rs17817449 | T | G | rs17817449 | 23535733 | 6.00E-07 | NA | 1.09 | [1.05-1.12] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs17817449-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 53855291 | rs11075995 | A | T | rs11075995 | 23535733 | 4.00E-08 | NA | 1.11 | [1.07-1.15] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 53995584 | rs11644943 | T | A | rs11644943 | 18463975 | 0.000161 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 16 | 54027971 | rs12596210 | T | C | rs12596210 | 22675492 | 9.00E-06 | NA | 0.12 | [NA] unit decrease | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs12596210-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 54027971 | rs35873641 | T | TG | rs12596210 | 22675492 | 9.00E-06 | NA | 0.12 | [NA] unit decrease | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs12596210-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 67037054 | rs61744399 | A | C | rs61744399 | 23555315 | 0.00076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 69727480 | rs145602190 | A | G | rs145602190 | 23555315 | 0.00000017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 16 | 72108192 | rs200255876 | T | G | rs200255876 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 16 | 72228506 | rs3852789 | A | C | rs3852789 | 17529967 | 3.00E-05 | NA | NA | NA | 390 cases; 364 controls | NOPOP(754) | ALL(754) | NOPOP(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 16 | 73439355 | rs9934948 | C | T | rs9934948 | 22232737 | 6.00E-06 | Total Mortality | 1.29 | [1.16-1.44] | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | rs9934948-C | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | T |
| 16 | 74472696 | rs10871290 | C | T | rs10871290 | 18463975 | 0.000015 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 16 | 74506447 | rs8059315 | G | C | rs8059315 | 18463975 | 0.0000416 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 16 | 74523739 | rs9938426 | G | C | rs9938426 | 18463975 | 0.0000334 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 16 | 76336609 | rs1428759 | G | A | rs1428759 | 22675492 | 1.53E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 76340905 | rs9939043 | G | A | rs9939043 | 22675492 | 2.70E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 16 | 76341506 | rs1428758 | A | G | rs1428758 | 22675492 | 1.74E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 16 | 76350805 | rs2866710 | A | G | rs2866710 | 22675492 | 1.17E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 16 | 77822722 | rs61737715 | C | T | rs61737715 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 80650805 | rs13329835 | A | G | rs13329835 | 23535729 | 2.00E-16 | NA | 1.08 | [1.05-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs13329835-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 81095485 | rs145595395 | G | A | rs145595395 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 16 | 81958298 | rs7192724 | C | G | rs7192724 | 24080446 | 3.00E-06 | NA | 1.24 | [1.13-1.36] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 16 | 81959191 | rs17202296 | G | C | rs17202296 | 24080446 | 2.80E-05 | NA | 1.21 | [1.10-1.32] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 16 | 81963618 | rs4888190 | G | T | rs4888190 | 24080446 | 4.50E-05 | NA | 1.2 | [1.10-1.31] | 2,920 European ancestry cases | European(2920) | ALL(2920) | EUR(2920) | ALL(2920) | Breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 16 | 82644583 | rs4783238 | T | G | rs4783238 | 24025145 | 1.12E-06 | Allelic | 4.83 | [2.50-9.31] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs4783238-A | Research Support, Non-U.S. Gov't | G | NA |
| 16 | 82646333 | rs3844412 | A | G | rs3844412 | 24025145 | 4.00E-07 | Dominant | 5.22 | [2.67-10.20] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs3844412-A | Research Support, Non-U.S. Gov't | C | NA |
| 16 | 82896398 | rs11647182 | A | G | rs11647182 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 16 | 83326059 | rs11644424 | C | A | rs11644424 | 24025145 | 8.00E-06 | Dominant | 3.32 | [1.71-6.44] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs11644424-T | Research Support, Non-U.S. Gov't | C | CDH13 |
| 16 | 83335839 | rs11860092 | C | T | rs11860092 | 24025145 | 9.66E-06 | Dominant | 3.07 | [1.59-5.94] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs11860092-A | Research Support, Non-U.S. Gov't | G | CDH13 |
| 16 | 84270890 | rs35075881 | T | C | rs35075881 | 23555315 | 0.000025 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 16 | 84866420 | rs9932059 | A | G | rs9932059 | 18463975 | 0.000258 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 17 | 198698 | rs11869174 | T | C | rs11869174 | pha002853 | 1.23E-04 | phs000147 | 1.04 | [0.88-1.25] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | RPH3AL | intron | NM_006987 |
| 17 | 7290695 | rs7220814 | A | G | rs7220814 | 23555315 | 0.00002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 7484812 | rs9901675 | G | A | rs9901675 | 22829776 | 1.00E-07 | (Men + Women, Conditional) | 0.06 | [0.037-0.077] unit decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs9901675-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7521915 | rs12150660 | G | T | rs12150660 | 21998597 | 1.00E-41 | Testosterone | 31.8 | [27.29-36.31] ng/dl increase | 8,938 European ancestry males | European(8938) | ALL(8938) | EUR(8938) | ALL(8938) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs12150660-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 17 | 7521915 | rs12150660 | G | T | rs12150660 | 22829776 | 2.00E-106 | Men + Women | 0.1 | [0.094-0.112] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs12150660-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7521915 | rs12150660 | G | T | rs12150660 | 22829776 | 2.00E-55 | Men + Women, Conditional | 0.08 | [0.072-0.092] unit increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs12150660-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7521915 | rs12150660 | G | T | rs12150660 | 22829776 | 4.00E-80 | Men | 0.11 | [0.099-0.121] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs12150660-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7521915 | rs12150660 | G | T | rs12150660 | 22829776 | 6.00E-30 | Women | 0.09 | [0.071-0.101] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs12150660-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7534678 | rs6258 | C | T | rs6258 | 21998597 | 2.00E-22 | Testosterone | 82.3 | [65.64-98.96] ng/dl decrease | 8,938 European ancestry males | European(8938) | ALL(8938) | EUR(8938) | ALL(8938) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs6258-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 17 | 7534678 | rs6258 | C | T | rs6258 | 22829776 | 3.00E-46 | (Men + Women, Conditional) | 0.27 | [0.24-0.31] unit decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs6258-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7537792 | rs727428 | T | C | rs727428 | 22675492 | 2.00E-16 | NA | 0.13 | [NA] unit decrease | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs727428-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 7545721 | rs1641537 | T | C | rs1641537 | 22829776 | 1.00E-24 | (Men + Women, Conditional) | 0.06 | [0.052-0.076] unit decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs1641537-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7578115 | rs1625895 | T | C | rs1625895 | 22829776 | 2.00E-21 | (Men + Women, Conditional) | 0.12 | [0.11-0.13] unit decrease | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs1625895-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 7671294 | rs139308934 | G | A | rs139308934 | 23555315 | 0.00033 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 8046147 | rs12937495 | C | T | rs12937495 | 23555315 | 0.000082 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 8092694 | rs8531 | T | G | rs8531 | pha002853 | 1.91E-04 | phs000147 | 1.01 | [0.85-1.20] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | C17orf59 | cds-synon | NM_017622 |
| 17 | 8273026 | rs78738842 | G | A | rs78738842 | 23555315 | 0.00000027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 8383838 | rs111570631 | G | A | rs111570631 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 9090224 | rs3785982 | C | T | rs3785982 | 23319801 | 8.00E-06 | NA | 1.4 | [1.21-1.62] | 536 early-onset cases | NOPOP(536) | ALL(536) | NOPOP(536) | ALL(536) | Breast cancer (prognosis) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't | C | NTN1 |
| 17 | 11166786 | rs112380460 | G | A | rs112380460 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 12636154 | rs12944722 | G | C | rs12944722 | 22675492 | 6.73E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 12636735 | rs200893721 | T | TAC | rs7225709 | 22675492 | 5.78E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 12636735 | rs7225709 | T | C | rs7225709 | 22675492 | 5.78E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 12637371 | rs9905820 | T | G | rs9905820 | 22675492 | 4.00E-06 | NA | 0.09 | [NA] unit decrease | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | rs9905820-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 17 | 12637602 | rs12603345 | T | C | rs12603345 | 22675492 | 6.11E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 16347245 | rs185998385 | C | T | rs185998385 | 23555315 | 0.00058 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 26940561 | rs140829639 | A | G | rs140829639 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 27417925 | rs115455253 | C | T | rs115455253 | 23555315 | 0.000093 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 27959223 | rs140696098 | C | G | rs140696098 | 23555315 | 0.00001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 28295809 | rs185083507 | A | G | rs185083507 | 23555315 | 0.00021 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 32989538 | rs11654964 | A | C | rs11654964 | 24080446 | 3.00E-06 | NA | 1.67 | [1.35-2.06] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 17 | 32989786 | rs16970162 | G | C | rs16970162 | 24080446 | 8.60E-06 | NA | 1.66 | [1.33-2.07] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 17 | 32998577 | rs11080292 | C | T | rs11080292 | 24080446 | 9.30E-06 | NA | 1.66 | [1.33-2.08] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 17 | 34191290 | rs141245415 | C | T | rs141245415 | 23555315 | 0.000069 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 38068621 | rs12450091 | T | C | rs12450091 | 23555315 | 0.0002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 17 | 38418816 | rs141184179 | C | T | rs141184179 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 38770286 | rs7221109 | T | C | rs7221109 | 23555315 | 0.00022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 39974440 | rs117897485 | C | T | rs117897485 | 23555315 | 0.00065 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 41106983 | rs146878083 | T | C | rs146878083 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 17 | 42335888 | rs28931583 | G | C | rs28931583 | 23555315 | 0.000014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 42918966 | rs17544947 | T | G | rs17544947 | 23544013 | 1.31E-05 | All Stages | NA | NA | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 42918966 | rs17544947 | T | G | rs17544947 | 23544013 | 5.67E-05 | Breast Cancer ER-negative in BRCA1 carriers | 1.14 | [1.08-1.22] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 43247151 | rs200017941 | G | A | rs200017941 | 23555315 | 0.000054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 17 | 44974347 | rs197932 | T | C | rs197932 | 23555315 | 0.00049 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 45891202 | rs201063776 | T | G | rs201063776 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 17 | 47445751 | rs200932358 | GATAA | G | rs2411984 | 22829776 | 2.00E-10 | Men | 0.03 | [0.023-0.045] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs2411984-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 47445751 | rs200932358 | GATAA | G | rs2411984 | 22829776 | 4.00E-14 | Men + Women | 0.03 | [0.024-0.042] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs2411984-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 47445751 | rs2411984 | G | A | rs2411984 | 22829776 | 2.00E-10 | Men | 0.03 | [0.023-0.045] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs2411984-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 47445751 | rs2411984 | G | A | rs2411984 | 22829776 | 4.00E-14 | Men + Women | 0.03 | [0.024-0.042] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs2411984-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 47445751 | rs371768722 | G | GATAA | rs2411984 | 22829776 | 2.00E-10 | Men | 0.03 | [0.023-0.045] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs2411984-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 47445751 | rs371768722 | G | GATAA | rs2411984 | 22829776 | 4.00E-14 | Men + Women | 0.03 | [0.024-0.042] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs2411984-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| 17 | 48274291 | rs2075555 | T | G | rs2075555 | 17903305 | 8.00E-08 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | C | COL1A1 |
| 17 | 48600427 | rs146276624 | C | A,T | rs146276624 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 51862028 | rs4483901 | A | G | rs4483901 | 21060860 | 1.90E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 51901084 | rs3803825 | A | G | rs3803825 | 21060860 | 1.52E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 51909049 | rs4794469 | C | A | rs4794469 | 21060860 | 1.06E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 53056471 | rs6504950 | G | A | rs6504950 | 19330027 | 1.40E-05 | COX11 expression in lymphocytes | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 53056471 | rs6504950 | G | A | rs6504950 | 19330027 | 1.40E-08 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 53056471 | rs6504950 | G | A | rs6504950 | 23535729 | 2.00E-13 | NA | 1.06 | [1.04-1.09] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6504950-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A,G |
| 17 | 54453119 | rs7210515 | C | T | rs7210515 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 17 | 54557543 | rs5027751 | G | A | rs5027751 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 17 | 54557591 | rs2165759 | T | C | rs2165759 | 21245432 | 0.0001 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 17 | 55823552 | rs8077059 | C | T | rs8077059 | 22675492 | 5.00E-06 | NA | 0.08 | [NA] unit decrease | 1,598 European ancestry women | European(1598) | ALL(1598) | EUR(1598) | ALL(1598) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs8077059-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 56389516 | rs144106922 | C | T | rs144106922 | 23555315 | 0.000071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 57050365 | rs16943326 | C | T | rs16943326 | pha002853 | 4.30E-05 | phs000147 | 1.04 | [0.87-1.25] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | PPM1E | intron | NM_014906 |
| 17 | 57061238 | rs3809724 | G | A | rs3809724 | pha002853 | 9.48E-05 | phs000147 | 1.01 | [0.84-1.20] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | PPM1E | UTR-3 | NM_014906 |
| 17 | 59391379 | rs34578071 | A | AT | rs3785856 | 23468962 | 8.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 17 | 59391379 | rs3785856 | A | G | rs3785856 | 23468962 | 8.00E-06 | NA | NA | NA | 3,016 African American cases; 2,745 African American controls | African American(5761) | ALL(5761) | AFR(5761) | ALL(5761) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, U.S. Gov't, Non-P.H.S. |
| 17 | 61897716 | rs115348708 | C | G | rs115348708 | 23555315 | 0.000017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 65717525 | rs2291284 | T | C | rs2291284 | 23555315 | 0.000014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 66270082 | rs35397826 | A | G | rs35397826 | 23555315 | 0.000059 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 17 | 68290082 | rs11077488 | C | T | rs11077488 | 22452962 | 1.20E-05 | NA | NA | NA | 2,273 Korean ancestry cases; 2,052 Korean ancestry controls | Korean(4325) | ALL(4325) | ASN(4325) | ALL(4325) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | NA | NA |
| 17 | 72366770 | rs150121973 | G | A | rs150121973 | 23555315 | 0.000046 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 72613389 | rs144682080 | C | T | rs144682080 | 23555315 | 0.00019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 72875670 | rs199975806 | C | A | rs199975806 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 17 | 72926682 | rs141455683 | G | A | rs141455683 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 74625633 | rs115756441 | C | T | rs115756441 | 23555315 | 0.0000024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C,T |
| 17 | 76565555 | rs144524797 | C | T | rs144524797 | 23555315 | 0.00016 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 77852795 | rs2587493 | C | G | rs2587493 | 18463975 | 0.000336 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 17 | 78032753 | rs187993089 | C | T | rs187993089 | 23555315 | 0.00074 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 17 | 78055521 | rs200815406 | A | G | rs200815406 | 23555315 | 0.000023 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 17 | 78972930 | rs144716331 | G | T | rs144716331 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 17 | 80137043 | rs140732712 | C | G | rs140732712 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 18 | 5071785 | rs188357 | T | C | rs188357 | pha002853 | 9.13E-05 | phs000147 | 1.15 | [0.95-1.39] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | NA | NA | NA |
| 18 | 7037641 | rs143997842 | G | A | rs143997842 | 23555315 | 0.000031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 18 | 10487749 | rs114154601 | C | T | rs114154601 | 23555315 | 0.00061 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 18 | 12273032 | rs7243090 | T | A | rs7243090 | 21060860 | 5.06E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 18 | 24337424 | rs527616 | C | G | rs527616 | 23535729 | 2.00E-10 | NA | 1.05 | [1.03-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs527616-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 18 | 24570667 | rs1436904 | T | G | rs1436904 | 23535729 | 3.00E-08 | NA | 1.04 | [1.02-1.06] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs1436904-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 18 | 25532304 | rs2289664 | T | C | rs2289664 | 23555315 | 0.00012 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 18 | 28713994 | rs28620831 | A | C,G | rs28620831 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 18 | 29333635 | rs6506940 | G | A | rs6506940 | 24080446 | 1.20E-05 | NA | 1.92 | [1.43-2.58] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 18 | 29364523 | rs594334 | C | T | rs594334 | 24080446 | 3.40E-05 | NA | 1.88 | [1.40-2.54] | 541 European ancestry cases | European(541) | ALL(541) | EUR(541) | ALL(541) | Lobular breast cancer (menopausal hormone therapy interaction) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 18 | 33882448 | rs9956546 | G | A | rs9956546 | 17529974 | 2.90E-06 | NA | NA | NA | 1,599 cases; 11,546 controls | NOPOP(13145) | ALL(13145) | NOPOP(13145) | ALL(13145) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | Comparative Study | G |
| 18 | 42725529 | rs1942574 | G | A | rs1942574 | 23423446 | 7.94E-22 | NA | NA | NA | 731 European ancestry cases | European(731) | ALL(731) | EUR(731) | ALL(731) | Breast cancer (Postmenopausal women) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 18 | 50994295 | rs200386788 | G | A | rs200386788 | 23555315 | 0.00035 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 18 | 51434340 | rs904276 | T | C | rs904276 | 22258532 | 0.0005 | NA | NA | NA | 302 Caucasian cases; 321 Caucasian controls | Caucasian(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | NA |
| 18 | 51681244 | rs7614 | T | C | rs7614 | 22258532 | 0.0006 | NA | NA | NA | 302 Caucasian cases; 321 Caucasian controls | Caucasian(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | A | MBD2 |
| 18 | 51685525 | rs4041245 | T | C | rs4041245 | 22258532 | 0.0009 | NA | NA | NA | 302 Caucasian cases; 321 Caucasian controls | Caucasian(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | MBD2 |
| 18 | 51700391 | rs8094493 | T | G | rs8094493 | 22258532 | 0.0009 | NA | NA | NA | 302 Caucasian cases; 321 Caucasian controls | Caucasian(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, Non-U.S. Gov't | T | MBD2 |
| 18 | 51888070 | rs145808382 | C | G | rs145808382 | 23555315 | 0.00022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 18 | 53664282 | rs1978503 | A | G | rs1978503 | 17903305 | 1.00E-06 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | G | NA |
| 18 | 55456674 | rs2571236 | G | A | rs2571236 | 20332263 | 5.32E-06 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 18 | 56948020 | rs17696441 | A | C | rs17696441 | 22232737 | 4.30E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | A |
| 18 | 61176266 | rs2032224 | C | A | rs2032224 | 24025145 | 9.00E-06 | Recessive | 2.16 | [1.42-3.27] | 119 Japanese ancestry cases; 105 Japanese ancestry controls | Japanese(224) | ALL(224) | ASN(224) | ALL(224) | Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs2032224-A | Research Support, Non-U.S. Gov't | C | NA |
| 18 | 62898666 | rs637644 | A | G | rs637644 | 24025145 | 7.00E-06 | Allelic | 32.5 | [4.08-259.00] | 64 Japanese ancestry cases; 27 Japanese ancestry controls | Japanese(91) | ALL(91) | ASN(91) | ALL(91) | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs637644-G | Research Support, Non-U.S. Gov't | C | NA |
| 18 | 69243739 | rs9953717 | T | C | rs9953717 | pha002853 | 7.66E-05 | phs000147 | 1.19 | [0.98-1.45] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | T | LOC100505776 | intron | NR_038325 |
| 18 | 72344002 | rs115368653 | G | A | rs115368653 | 23555315 | 0.00014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 18 | 72787046 | rs17056274 | A | G | rs17056274 | 22675492 | 4.00E-06 | NA | 0.66 | [NA] unit increase | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs17056274-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 18 | 73498528 | rs11150911 | A | C | rs11150911 | pha002853 | 7.69E-05 | phs000147 | 1.47 | [1.23-1.74] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 18 | 73510530 | rs1460277 | A | G | rs1460277 | pha002853 | 1.50E-04 | phs000147 | 1.46 | [1.22-1.74] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 18 | 74129886 | rs2848961 | G | C | rs2848961 | 18463975 | 0.000251 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 18 | 74437679 | rs11660857 | C | T | rs11660857 | 21060860 | 1.03E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 18 | 74441415 | rs11150978 | A | G | rs11150978 | 21060860 | 3.62E-06 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 18 | 76687314 | rs936503 | G | A | rs936503 | 20332263 | 2.49E-05 | Breast cancer survival | NA | NA | 1145 European ancestry women | European(1145) | ALL(1145) | EUR(1145) | ALL(1145) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 19 | 438830 | rs140148508 | T | C | rs140148508 | 23555315 | 0.00027 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 1058176 | rs4147918 | A | G | rs4147918 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 2425409 | rs199844209 | C | G | rs199844209 | 23555315 | 0.000031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 19 | 2426037 | rs7252121 | C | T | rs7252121 | 23555315 | 0.00071 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 2834336 | rs142404413 | C | T | rs142404413 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 3589461 | rs182473859 | C | T | rs182473859 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 11508192 | rs111956126 | G | A | rs111956126 | 23555315 | 0.00024 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 11546269 | rs17426435 | G | A | rs17426435 | 23555315 | 0.00062 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 13249098 | rs150928114 | G | A | rs150928114 | 23555315 | 0.000063 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 15572397 | rs201708162 | A | G | rs201708162 | 23555315 | 0.000046 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 19 | 17170885 | rs1130222 | C | A,G,T | rs1130222 | 23555315 | 0.000066 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 17278384 | rs8112726 | T | G | rs8112726 | 20852631 | 5.19E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17316802 | rs75251420 | G | A | rs75251420 | 23555315 | 0.0000087 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 17337025 | rs2288544 | C | T | rs2288544 | 20852631 | 1.73E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17352961 | rs10421287 | C | T | rs10421287 | 20852631 | 1.39E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17352985 | rs10419742 | G | C | rs10419742 | 20852631 | 4.42E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17354586 | rs891205 | C | A | rs891205 | 20852631 | 1.28E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17354825 | rs4808611 | C | T | rs4808611 | 20852631 | 3.24E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17358188 | rs73012590 | T | A | rs71334692 | 20852631 | 3.60E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17358189 | rs34963425 | C | A | rs34963425 | 20852631 | 3.05E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17359299 | rs35630819 | C | T | rs35630819 | 20852631 | 1.24E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17359535 | rs35686037 | C | T | rs35686037 | 20852631 | 3.08E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17361064 | rs10415471 | C | T | rs10415471 | 20852631 | 3.08E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17363059 | rs7247167 | C | G | rs7247167 | 20852631 | 4.42E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17363068 | rs7246243 | G | A | rs7246243 | 20852631 | 4.42E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17363444 | rs68179022 | G | C | rs68179022 | 20852631 | 1.07E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17364085 | rs73012598 | C | T | rs73012598 | 20852631 | 3.59E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17366806 | rs7248801 | C | T | rs7248801 | 20852631 | 1.48E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17367585 | rs4464206 | G | C | rs4464206 | 20852631 | 1.38E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17371568 | rs12982178 | T | C | rs12982178 | 20852631 | 1.81E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17372199 | rs58925582 | C | T | rs58925582 | 20852631 | 1.81E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17376948 | rs12104352 | G | T | rs12104352 | 20852631 | 5.90E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17376948 | rs35256297 | GT | G | rs12104352 | 20852631 | 5.90E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17377558 | rs12980812 | C | G | rs12980812 | 20852631 | 1.01E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17379558 | rs10424178 | C | T | rs10424178 | 20852631 | 1.17E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17382505 | rs10420922 | A | T | rs10420922 | 20852631 | 2.37E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17382990 | rs35604430 | A | G | rs35604430 | 20852631 | 1.18E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17383602 | rs62126227 | C | T | rs62126227 | 20852631 | 3.13E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17384003 | rs10402468 | C | A | rs10402468 | 20852631 | 1.62E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17384267 | rs3745185 | G | A | rs3745185 | 20852631 | 3.86E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17385176 | rs10416654 | T | C | rs10416654 | 20852631 | 1.65E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17385380 | rs11291512 | TA | T | rs3837926 | 20852631 | 1.71E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17385380 | rs3837926 | T | A | rs3837926 | 20852631 | 1.71E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17385380 | rs398034105 | TA | T | rs3837926 | 20852631 | 1.71E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17385381 | rs11086064 | A | T | rs11086064 | 20852631 | 2.05E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17385502 | rs67412075 | A | G | rs67412075 | 20852631 | 1.67E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17386006 | rs10418154 | A | G | rs10418154 | 20852631 | 1.69E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17386107 | rs10418362 | A | T | rs10418362 | 20852631 | 1.69E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17386107 | rs35552009 | A | AT | rs10418362 | 20852631 | 1.69E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17386107 | rs398120865 | A | AT | rs10418362 | 20852631 | 1.69E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17387176 | rs34084277 | A | G | rs34084277 | 20852631 | 3.75E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17387254 | rs61634114 | G | A | rs61634114 | 20852631 | 1.71E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17388014 | rs73014418 | T | C | rs73014418 | 20852631 | 1.72E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17388790 | rs56028644 | C | T | rs56028644 | 20852631 | 1.71E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17389156 | rs10426697 | C | T | rs10426697 | 20852631 | 4.19E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17389648 | rs10406920 | C | T | rs10406920 | 20852631 | 1.75E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17389704 | rs8170 | G | A | rs8170 | 20852631 | 2.00E-09 | NA | 1.26 | [1.17-1.35] | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs8170-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17389704 | rs8170 | G | A | rs8170 | 23535733 | 9.00E-13 | NA | 1.15 | [1.11-1.20] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs8170-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 17389704 | rs8170 | G | A | rs8170 | 23544013 | 4.00E-13 | NA | 1.19 | [1.14-1.25] | 1,426 European ancestry cases; 1,301 European ancestry controls | European(2727) | ALL(2727) | EUR(2727) | ALL(2727) | Breast Cancer in BRCA1 mutation carriers | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0000305 | breast carcinoma | Breast cancer | rs8170-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 19 | 17389704 | rs8170 | G | A | rs8170 | 24325915 | 1.26E-07 | NA | 1.26 | [1.16-1.37] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs8170-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 17390291 | rs4808075 | T | C | rs4808075 | 20852631 | 9.36E-12 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17390478 | rs11667618 | C | T | rs11667618 | 20852631 | 3.22E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17390579 | rs11667661 | C | T | rs11667661 | 20852631 | 3.23E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17390917 | rs4609972 | G | C | rs4609972 | 20852631 | 2.75E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17391328 | rs10419397 | G | A | rs10419397 | 20852631 | 9.89E-12 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17392894 | rs8100241 | G | A | rs8100241 | 20852631 | 3.91E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17392894 | rs8100241 | G | A | rs8100241 | 22976474 | 4.00E-08 | NA | 1.14 | NA | 3,666 European ancestry cases; 28,864 European ancestry controls; 1,004 African American cases; 2,744 African American controls | African American(3748) | European(32530) | ALL(36278) | AFR(3748) | EUR(32530) | ALL(36278) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs8100241-G | Research Support, N.I.H., Extramural |
| 19 | 17393449 | rs73509996 | T | G | rs73509996 | 20852631 | 1.77E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17393925 | rs56069439 | C | A | rs56069439 | 20852631 | 1.06E-11 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17394124 | rs2363956 | T | G | rs2363956 | 20852631 | 5.54E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17394124 | rs2363956 | T | G | rs2363956 | 24325915 | 2.00E-08 | NA | 1.22 | [1.14-1.30] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs2363956-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 17394839 | rs66753001 | A | G | rs66753001 | 20852631 | 1.63E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17395401 | rs4808076 | C | T | rs4808076 | 20852631 | 1.63E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17396942 | rs748850 | C | T | rs748850 | 20852631 | 3.40E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17397244 | rs10425939 | C | T | rs10425939 | 20852631 | 1.55E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17397481 | rs1465581 | G | T | rs1465581 | 20852631 | 1.07E-11 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17399625 | rs11668840 | T | C | rs11668840 | 20852631 | 3.55E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17401315 | rs7245873 | G | A | rs7245873 | 20852631 | 3.84E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17401404 | rs67397200 | C | G | rs67397200 | 20852631 | 1.25E-11 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17401521 | rs12974508 | C | T | rs12974508 | 20852631 | 3.58E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17401680 | rs12975707 | A | G | rs12975707 | 20852631 | 3.81E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17401859 | rs61494113 | G | A | rs61494113 | 20852631 | 1.29E-11 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17403033 | rs4808616 | C | A | rs4808616 | 20852631 | 1.30E-11 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17403361 | rs11540855 | A | G | rs11540855 | 20852631 | 1.65E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17406167 | rs28473003 | C | T | rs28473003 | 20852631 | 1.66E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17407597 | rs34546260 | G | A | rs34546260 | 20852631 | 1.40E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17409380 | rs12982058 | C | T | rs12982058 | 20852631 | 2.47E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17409671 | rs10424198 | C | T | rs10424198 | 20852631 | 6.57E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17409949 | rs62126253 | C | T | rs62126253 | 20852631 | 1.49E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17422036 | rs10423120 | A | G | rs10423120 | 20852631 | 9.21E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17424947 | rs12327712 | T | G | rs12327712 | 20852631 | 9.66E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17437744 | rs11666308 | T | C | rs11666308 | 20852631 | 4.71E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17440542 | rs8110408 | C | G | rs8110408 | 20852631 | 1.32E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17451369 | rs60397819 | G | T | rs60397819 | 20852631 | 1.99E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17457552 | rs2364542 | G | A | rs2364542 | 20852631 | 2.87E-09 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17459902 | rs12974368 | G | A | rs12974368 | 20852631 | 1.77E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17468090 | rs73016427 | G | A | rs73016427 | 20852631 | 4.45E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 17475225 | rs73016432 | G | T | rs73016432 | 20852631 | 2.17E-06 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 19 | 18368694 | rs202121427 | G | T | rs202121427 | 23555315 | 0.00026 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 19 | 18502835 | rs6512265 | G | A | rs6512265 | 23555315 | 0.0002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 18571141 | rs4808801 | A | G | rs4808801 | 23535729 | 5.00E-15 | NA | 1.08 | [1.05-1.10] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4808801-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 18571141 | rs4808801 | A | G | rs4808801 | 23535733 | 5.10E-05 | NA | 1.08 | [1.04-1.11] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs4808801-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 31894118 | rs16965610 | A | C | rs16965610 | 22675492 | 1.54E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 31911129 | rs11880316 | C | A | rs11880316 | 22675492 | 4.00E-06 | NA | 0.41 | [NA] unit increase | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs11880316-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 35260442 | rs117610843 | C | T | rs117610843 | 23555315 | 0.00018 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 36340009 | rs113825926 | G | A | rs113825926 | 23555315 | 0.00044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 41127465 | rs8107014 | C | T | rs8107014 | 18463975 | 0.000476 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 19 | 41947635 | rs7260605 | C | T | rs7260605 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 42840173 | rs201180083 | G | A | rs201180083 | 23555315 | 0.00022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 19 | 44286513 | rs3760982 | A | G | rs3760982 | 23535729 | 2.00E-10 | NA | 1.06 | [1.04-1.08] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs3760982-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 45206624 | rs114907619 | T | C | rs114907619 | 23555315 | 0.000034 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 46733560 | rs187146043 | T | G | rs187146043 | 23555315 | 0.000019 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 47138646 | rs3810295 | G | A,C,T | rs3810295 | 24325915 | 4.30E-05 | NA | 1.24 | [1.12-1.37] | 1,529 European ancestry cases; 3,399 European ancestry controls | European(4928) | ALL(4928) | EUR(4928) | ALL(4928) | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs3810295-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 48734262 | rs150982505 | C | A | rs150982505 | 23555315 | 0.000057 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 49376683 | rs45533432 | A | G | rs45533432 | 23555315 | 0.00015 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 51957493 | rs140402033 | T | C | rs140402033 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 52372976 | rs10411161 | C | T | rs10411161 | 21424380 | 7.00E-06 | NA | 1.42 | [1.22-1.65] | 302 European ancestry cases; 321 European ancestry controls | European(623) | ALL(623) | EUR(623) | ALL(623) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs10411161-T | Research Support, Non-U.S. Gov't | Comparative Study | C |
| 19 | 53057722 | rs144870963 | A | G | rs144870963 | 23555315 | 0.00005 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 19 | 53747024 | rs116784215 | C | G | rs116784215 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 55591614 | rs200577842 | G | A | rs200577842 | 23555315 | 0.000044 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 19 | 55748338 | rs61743087 | G | A | rs61743087 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 56227165 | rs11882068 | A | G | rs11882068 | 21062454 | 3.25E-05 | Breast cancer (Estrogen receptor negative breast cancer) | NA | NA | 617 Swedish and Finnish ER-negative cases; 4583 Swedish and Finnish controls | Finnish,Swedish(5200) | ALL(5200) | EUR(5200) | ALL(5200) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 57723007 | rs2074858 | G | C | rs2074858 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 57723013 | rs917340 | G | A | rs917340 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G,A |
| 19 | 58049931 | rs144559367 | A | G | rs144559367 | 23555315 | 0.00014 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 19 | 58067680 | rs61734156 | C | T | rs61734156 | 23555315 | 0.00028 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 19 | 58946056 | rs1465789 | G | A | rs1465789 | 18463975 | 0.000124 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 19 | 58960481 | rs11669741 | T | C | rs11669741 | 18463975 | 0.000294 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 20 | 759315 | rs6117615 | A | G | rs6117615 | 24025145 | 7.00E-06 | Dominant | 3.89 | [2.10-7.18] | 62 Japanese ancestry cases; 42 Japanese ancestry controls | Japanese(104) | ALL(104) | ASN(104) | ALL(104) | Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs6117615-C | Research Support, Non-U.S. Gov't | A | NA |
| 20 | 1551621 | rs147405398 | T | C | rs147405398 | 23555315 | 0.00031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 20 | 3673557 | rs199636258 | G | A | rs199636258 | 23555315 | 0.000054 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 20 | 4216864 | rs4815670 | A | G | rs4815670 | 22675492 | 4.44E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 7873112 | rs2423322 | A | G | rs2423322 | 22675492 | 4.48E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 8704552 | rs6077414 | T | C | rs6077414 | 23518928 | 1.00E-06 | NA | 1.47 | [1.257-1.711] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 20 | 11058072 | rs6078047 | A | G | rs6078047 | 18463975 | 0.00047 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 20 | 12861103 | rs6109595 | A | C | rs6109595 | pha002853 | 1.47E-04 | phs000147 | 1.59 | [1.27-1.96] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | A | NA | NA | NA |
| 20 | 18122912 | rs117280420 | C | G | rs117280420 | 23555315 | 0.00045 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 23030102 | rs191884040 | C | T | rs191884040 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 25457055 | rs146288604 | A | G | rs146288604 | 23555315 | 0.0000095 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 25457055 | rs146288604 | A | G | rs146288604 | 23555315 | 0.000081 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 32588095 | rs2284378 | T | C | rs2284378 | 22976474 | 1.00E-08 | NA | 1.16 | [1.10-1.22] | 3,666 European ancestry cases; 28,864 European ancestry controls; 1,004 African American cases; 2,744 African American controls | African American(3748) | European(32530) | ALL(36278) | AFR(3748) | EUR(32530) | ALL(36278) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2284378-T | Research Support, N.I.H., Extramural |
| 20 | 33872215 | rs1802241 | C | A | rs1802241 | 23555315 | 0.000064 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 33874600 | rs78127944 | C | T | rs78127944 | 23555315 | 0.000095 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 38292415 | rs6028593 | T | C | rs6028593 | 22675492 | 1.10E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 20 | 38300807 | rs6016142 | C | T | rs6016142 | 22675492 | 6.00E-08 | NA | 0.18 | [NA] unit decrease | 1,583 European ancestry women | European(1583) | ALL(1583) | EUR(1583) | ALL(1583) | Estradiol levels | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D004958 | Estradiol | NA | NA | Breast cancer | rs6016142-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 38313305 | rs6028607 | A | C | rs6028607 | 22675492 | 4.49E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 38322218 | rs17793544 | T | C | rs17793544 | 22675492 | 4.52E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 20 | 38333579 | rs292858 | A | G | rs292858 | 22675492 | 1.42E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 38365951 | rs6016162 | G | A | rs6016162 | 22675492 | 6.35E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 38382625 | rs6028637 | C | T | rs6028637 | 22675492 | 1.33E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 38384990 | rs17800079 | T | C | rs17800079 | 22675492 | 1.08E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 20 | 38386587 | rs6028642 | G | T | rs6028642 | 22675492 | 9.82E-06 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 38401589 | rs17206293 | A | T | rs17206293 | 22675492 | 1.93E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 38419842 | rs17800951 | T | G | rs17800951 | 22675492 | 1.58E-05 | NA | NA | NA | 1,589 European ancestry women | European(1589) | ALL(1589) | EUR(1589) | ALL(1589) | Testosterone levels | HPOID:0008230 | Decreased testosterone in males | DOID:1612 | breast cancer | D013739 | Testosterone | EFOID:0004908 | testosterone measurement | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 20 | 44462924 | rs57799507 | G | A | rs57799507 | 23555315 | 0.00029 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 50048783 | rs145231526 | G | A | rs145231526 | 23555315 | 0.000074 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 52192637 | rs34323943 | T | A,C,G | rs34323943 | 23555315 | 0.00008 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 20 | 52193088 | rs6063966 | C | T | rs6063966 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 60348084 | rs34937312 | C | T | rs34937312 | 23555315 | 0.000057 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 20 | 60892077 | rs199776859 | A | C | rs199776859 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 20 | 61385787 | rs856937 | A | G | rs856937 | pha002853 | 2.09E-04 | phs000147 | 1.52 | [1.23-1.85] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NTSR1 | intron | NM_002531 |
| 20 | 61387404 | rs2249938 | G | A | rs2249938 | pha002853 | 1.52E-04 | phs000147 | 1.54 | [1.25-1.89] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NTSR1 | intron | NM_002531 |
| 20 | 62217589 | rs311499 | T | C | rs311499 | 21060860 | 3.48E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 20 | 62838961 | rs148972645 | A | G | rs148972645 | 23555315 | 0.00053 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 21 | 16337963 | rs143359165 | T | A | rs143359165 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 21 | 16520832 | rs2823093 | G | A | rs2823093 | 23535729 | 7.00E-16 | NA | 1.09 | [1.06-1.11] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs2823093-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 21 | 18196922 | rs1034120 | C | T | rs1034120 | pha002853 | 5.56E-05 | phs000147 | 1.37 | [1.15-1.63] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 21 | 31177511 | rs458685 | A | G | rs458685 | 17903305 | 6.00E-06 | NA | NA | NA | 1,345 individuals(Framingham) | Framingham(1345) | ALL(1345) | EUR(1345) | ALL(1345) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | T | GRIK1 |
| 21 | 35543467 | rs873811 | C | T | rs873811 | pha002853 | 5.50E-05 | phs000147 | 1.87 | [1.40-2.50] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | C | NA | NA | NA |
| 21 | 35544641 | rs7277241 | G | A | rs7277241 | pha002853 | 7.74E-05 | phs000147 | 1.85 | [1.39-2.46] | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| 21 | 38660388 | rs9976694 | C | T | rs9976694 | 21060860 | 3.04E-04 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 21 | 41702947 | rs727333 | C | A | rs727333 | 23518928 | 1.00E-06 | NA | 1.54 | [1.295-1.837] unit increase | 700 European ancestry cases; 50 African ancestry cases; 17 Asian ancestry cases; 5 American Indian cases | American Indian(5) | Asia(17) | African(50) | European(700) | ALL(772) | ASN(17) | AMR(5) | AFR(50) | EUR(700) | ALL(772) | Estradiol plasma levels (breast cancer) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | EFOID:0004697 |
| 21 | 43092201 | rs2838088 | C | T | rs2838088 | 24025145 | 1.00E-06 | Dominant | 4.48 | [2.32-8.66] | 57 Japanese ancestry cases; 63 Japanese ancestry controls | Japanese(120) | ALL(120) | ASN(120) | ALL(120) | Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | rs2838088-A | Research Support, Non-U.S. Gov't | C | NA |
| 21 | 43529776 | rs201642313 | G | A | rs201642313 | 23555315 | 0.00000098 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 21 | 43529776 | rs201642313 | G | A | rs201642313 | 23555315 | 0.000056 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 21 | 46322945 | rs2838732 | C | T | rs2838732 | 21245432 | 0.00004 | NA | NA | NA | 26 European ancestry cases; 196 European ancestry controls; 11 cases; 90 controls | NOPOP(101) | European(222) | ALL(323) | NOPOP(101) | EUR(222) | ALL(323) | Alanine aminotransferase (ALT) elevation due to Lapatinib treatment of metastatic breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, Non-U.S. Gov't |
| 21 | 46950811 | rs142899279 | C | A | rs142899279 | 23555315 | 8.90E-09 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 18901008 | rs144323192 | G | A | rs144323192 | 23555315 | 0.0000049 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 22 | 23482658 | rs74701880 | C | T | rs74701880 | 23555315 | 0.000052 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 24567910 | rs146769197 | C | T | rs146769197 | 23555315 | 0.000031 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 24982125 | rs201525843 | C | T | rs201525843 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA |
| 22 | 26706747 | rs144295883 | C | T | rs144295883 | 23555315 | 0.000095 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 27258572 | rs136557 | G | T | rs136557 | 18463975 | 0.000167 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| 22 | 29161007 | rs4820792 | C | T | rs4820792 | 22747683 | 4.00E-07 | NA | 0.11 | [0.065-.146] cup size increase | 16,175 European ancestry women | European(16175) | ALL(16175) | EUR(16175) | ALL(16175) | Breast size | HPOID:0000769 | Abnormality of the breast | DOID:1612 | breast cancer | D001941 | Breast Diseases | EFOID:0004884 | breast carcinoma | Breast cancer | rs4820792-T | NA | C | NA |
| 22 | 29215542 | rs763073 | G | A | rs763073 | 19330027 | 3.80E-04 | Breast cancer | NA | NA | 390 European ancestry cases; 364 European ancestry controls | European(754) | ALL(754) | EUR(754) | ALL(754) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 22 | 29456467 | rs41281607 | T | C | rs41281607 | 23555315 | 0.0001 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 29621477 | rs132390 | C | T | rs132390 | 23535729 | 3.00E-09 | NA | 1.12 | [1.07-1.18] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs132390-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 36556882 | rs148712729 | T | C | rs148712729 | 23555315 | 0.000022 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer(er negative) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 36556882 | rs148712729 | T | C | rs148712729 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 36876729 | rs146269725 | T | C | rs146269725 | 23555315 | 0.00002 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 36876729 | rs146269725 | T | C | rs146269725 | 23555315 | 0.00011 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 40876234 | rs6001930 | T | C | rs6001930 | 23535729 | 9.00E-19 | NA | 1.12 | [1.09-1.16] | 10,052 European ancestry cases; 12,575 European ancestry controls | European(22627) | ALL(22627) | EUR(22627) | ALL(22627) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6001930-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 40876234 | rs6001930 | T | C | rs6001930 | 23535733 | 2.00E-06 | NA | 1.14 | [1.08-1.20] | 4,193 European ancestry cases; 35,194 European ancestry controls | European(39387) | ALL(39387) | EUR(39387) | ALL(39387) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | rs6001930-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 46607378 | rs5766743 | A | G | rs5766743 | 20852631 | 9.62E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 22 | 46610067 | rs4253728 | G | A | rs4253728 | 20852631 | 8.25E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 22 | 46615144 | rs4253754 | G | A | rs4253754 | 20852631 | 6.08E-04 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 22 | 47091143 | rs36211081 | A | C | rs36211081 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 22 | 50303554 | rs146322225 | T | C | rs146322225 | 23555315 | 0.0000076 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 22 | 50682785 | rs139896192 | C | T | rs139896192 | 23555315 | 0.0000037 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 22 | 50682785 | rs139896192 | C | T | rs139896192 | 23555315 | 0.000051 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 4198722 | rs5916576 | T | C | rs5916576 | 20852631 | 4.12E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| X | 7268296 | rs151332463 | C | G | rs151332463 | 23555315 | 0.00013 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer (ER positive) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 8010400 | rs5934349 | A | G | rs5934349 | pha002853 | 1.75E-04 | phs000147 | NA | NA | NA | ALL(0) | ALL(0) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | NA | G | NA | NA | NA |
| X | 22463536 | rs11094835 | C | T | rs11094835 | 22232737 | 9.60E-04 | NA | NA | NA | 1,950 Chinese ancestry cases | Chinese(1950) | ALL(1950) | ASN(1950) | ALL(1950) | Breast cancer (survival) | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | NA | NA | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, Non-P.H.S. | C |
| X | 32890872 | rs6527237 | G | A | rs6527237 | 21060860 | 7.95E-05 | NA | NA | NA | 899 European ancestry affected BRCA2 carriers; 804 European ancestry unaffected BRCA2 carriers | European(1703) | ALL(1703) | EUR(1703) | ALL(1703) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 37027276 | rs142884749 | A | G | rs142884749 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| X | 38742763 | rs199860 | T | C | rs199860 | 20852631 | 4.85E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| X | 42579174 | rs4084280 | G | C | rs4084280 | 20852631 | 3.20E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| X | 42923587 | rs5991566 | T | C | rs5991566 | 23555315 | 0.0003 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 46562925 | rs5952927 | C | A | rs5952927 | 18463975 | 0.000375 | NA | NA | NA | 26 European ancestry cases; 26 European ancestry controls; 3 Hispanic cases; 3 Hispanic controls; 1 African ancestry case; 1 African ancestry control | African(2) | European(52) | Hispanic(6) | ALL(60) | AFR(2) | HIS(6) | EUR(52) | ALL(60) | Breast cancer early age of onset | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | NA | NA | NA | NA | Breast cancer |
| X | 50335675 | rs17281496 | G | C | rs17281496 | 20852631 | 7.86E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| X | 55137978 | rs4124595 | A | G | rs4124595 | 23555315 | 0.0005 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C,T |
| X | 55574773 | rs3126259 | T | G | rs3126259 | 23555315 | 0.0005 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 83723541 | rs35161124 | A | G | rs35161124 | 23555315 | 0.00017 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| X | 83808253 | rs969017 | T | G | rs969017 | 23555315 | 0.000032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 109820068 | rs1573036 | C | T | rs1573036 | 22829776 | 3.00E-16 | Men | 0.04 | [0.027-0.043] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs1573036-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| X | 109820068 | rs1573036 | C | T | rs1573036 | 22829776 | 4.00E-14 | Men + Women | 0.03 | [0.021-0.035] umol/L increase | 21,791 European ancestry individuals | European(21791) | ALL(21791) | EUR(21791) | ALL(21791) | Sex hormone-binding globulin levels | HPOID:0004367 | Abnormality of glycoprotein metabolism | DOID:1612 | breast cancer | D012738 | Sex Hormone-Binding Globulin | EFOID:0004697 | sex hormone globulin binding measurement | Breast cancer | rs1573036-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Meta-Analysis |
| X | 120358529 | rs6608061 | G | C | rs6608061 | 20852631 | 3.10E-07 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| X | 135310785 | rs2273221 | T | C | rs2273221 | 23555315 | 0.00032 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 135313034 | rs1055497 | T | G | rs1055497 | 23555315 | 0.00058 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 143036520 | rs9306815 | G | A | rs9306815 | 23555315 | 0.0009 | NA | NA | NA | 3141 breast cancer cases; 3568 controlos; 4376 prostate cancer cases; 3977 controls | NOPOP(15062) | ALL(15062) | NOPOP(15062) | ALL(15062) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 144630068 | rs6626369 | T | C | rs6626369 | 20852631 | 3.14E-08 | NA | NA | NA | 1,193 white cases; 1,190 white controls | NOPOP(2383) | ALL(2383) | NOPOP(2383) | ALL(2383) | Breast cancer | HPOID:0003002 | Breast carcinoma | DOID:1612 | breast cancer | D001943 | Breast Neoplasms | EFOID:0000305 | breast carcinoma | Breast cancer | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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