All Snps(Total Genotypes:2124) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs10203853 | 24822274 | 54575 | UGT1A10 | umls:C0009402 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | MROH2A | 2 | 233778772 | A | G,T |
| rs10203853 | 24822274 | 54575 | UGT1A10 | umls:C1527249 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | MROH2A | 2 | 233778772 | A | G,T |
| rs10411210 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 19011631 | 652 | BMP4 | umls:C0009402 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.003800186 | 2008 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 19011631 | 85415 | RHPN2 | umls:C1527249 | GAD | [We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).] | 0.138936256 | 2008 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 19011631 | 652 | BMP4 | umls:C1527249 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.013268314 | 2008 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | RHPN2 | 19 | 33041394 | C | T |
| rs10411210 | 19011631 | 85415 | RHPN2 | umls:C1527249 | GWASCAT | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.138936256 | 2008 | RHPN2 | 19 | 33041394 | C | T |
| rs1041981 | 22419714 | 6934 | TCF7L2 | umls:C1527249 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.135863181 | 2012 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1041981 | 22419714 | 54901 | CDKAL1 | umls:C0009402 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.000271442 | 2012 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1041981 | 22419714 | 6934 | TCF7L2 | umls:C0009402 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.011400559 | 2012 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1041981 | 22419714 | 54901 | CDKAL1 | umls:C1527249 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.000271442 | 2012 | LTA;LOC100287329 | 6 | 31573007 | C | A |
| rs1042522 | 21051533 | 4193 | MDM2 | umls:C0009402 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.005700279 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17374954 | 7157 | TP53 | umls:C0009402 | BeFree | Few reports have investigated the association of two p53 polymorphisms (Arg72Pro and PIN3-A2) with colorectal cancer (CRC) risk, and no previous study has analyzed their role as susceptibility alleles for colorectal adenoma. | 0.084734064 | 2006 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17374954 | 7157 | TP53 | umls:C1527249 | BeFree | Few reports have investigated the association of two p53 polymorphisms (Arg72Pro and PIN3-A2) with colorectal cancer (CRC) risk, and no previous study has analyzed their role as susceptibility alleles for colorectal adenoma. | 0.16 | 2006 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17224235 | 6041 | RNASEL | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.000814326 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22393962 | 7157 | TP53 | umls:C1527249 | BeFree | Association of Arg72Pro of P53 polymorphism with colorectal cancer susceptibility risk in Malaysian population. | 0.16 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22393962 | 7157 | TP53 | umls:C0009402 | BeFree | Association of Arg72Pro of P53 polymorphism with colorectal cancer susceptibility risk in Malaysian population. | 0.084734064 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21051533 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.16 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21971103 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.012681823 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 18988302 | 7157 | TP53 | umls:C0009402 | BeFree | The p53 R72P genotype was identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 78 consecutive colorectal cancer patients with liver metastases and 214 age- and sex-matched cases with nonmetastatic colorectal cancer. | 0.084734064 | 2008 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21971103 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.062389495 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21971103 | 7157 | TP53 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.084734064 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 16353134 | 7157 | TP53 | umls:C0009402 | BeFree | Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53. | 0.084734064 | 2006 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20615891 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 Arg72Pro polymorphism and colorectal cancer risk: a systematic review and meta-analysis. | 0.16 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17224235 | 7157 | TP53 | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.16 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20449797 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. | 0.16 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23183747 | 7157 | TP53 | umls:C0009402 | BeFree | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. | 0.084734064 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17224235 | 7157 | TP53 | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.084734064 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21971103 | 7157 | TP53 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.16 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21051533 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.084734064 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23183747 | 7157 | TP53 | umls:C1527249 | BeFree | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. | 0.16 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20449797 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. | 0.084734064 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 16353134 | 7157 | TP53 | umls:C1527249 | BeFree | Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53. | 0.16 | 2006 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20615891 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 Arg72Pro polymorphism and colorectal cancer risk: a systematic review and meta-analysis. | 0.084734064 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21124037 | 7157 | TP53 | umls:C1527249 | BeFree | Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis. | 0.16 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21051533 | 4193 | MDM2 | umls:C1527249 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.017263997 | 2011 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 17224235 | 6041 | RNASEL | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.003181358 | 2007 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21124037 | 7157 | TP53 | umls:C0009402 | BeFree | Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis. | 0.084734064 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1045485 | 18362937 | 841 | CASP8 | umls:C1527249 | BeFree | CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population. | 0.011172724 | 2008 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 18362937 | 841 | CASP8 | umls:C0009402 | BeFree | CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population. | 0.004614512 | 2008 | CASP8 | 2 | 201284866 | G | C |
| rs1045642 | 23504525 | 5243 | ABCB1 | umls:C0009402 | BeFree | Association between the C3435T polymorphism of ABCB1/MDR1 gene (rs1045642) and colorectal cancer susceptibility : a meta-analysis based on 11,339 subjects. | 0.010586233 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 12894567 | 5243 | ABCB1 | umls:C0009402 | BeFree | MDR1 single nucleotide polymorphism C3435T in normal colorectal tissue and colorectal carcinomas detected by MALDI-TOF mass spectrometry. | 0.010586233 | 2003 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 23504525 | 5243 | ABCB1 | umls:C1527249 | BeFree | Association between the C3435T polymorphism of ABCB1/MDR1 gene (rs1045642) and colorectal cancer susceptibility : a meta-analysis based on 11,339 subjects. | 0.044734503 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1047781 | 24941225 | 28 | ABO | umls:C1527249 | BeFree | The rs1047781 (chr19- FUT2) (A/T) was associated with elevated sCEA levels, and rs8176746 (chr9- ABO) was associated with the regional lymph metastasis in the CRC patients. | 0.000271442 | 2014 | FUT2;LOC105447645 | 19 | 48703374 | A | T |
| rs1047781 | 24941225 | 28 | ABO | umls:C0009402 | BeFree | The rs1047781 (chr19- FUT2) (A/T) was associated with elevated sCEA levels, and rs8176746 (chr9- ABO) was associated with the regional lymph metastasis in the CRC patients. | 0.000271442 | 2014 | FUT2;LOC105447645 | 19 | 48703374 | A | T |
| rs1048943 | 18409146 | 1543 | CYP1A1 | umls:C1527249 | BeFree | Relationship between genetic polymorphism of CYP1A1 at codon 462 (Ile462Val) in colorectal cancer. | 0.071510236 | 2008 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 18409146 | 1543 | CYP1A1 | umls:C0009402 | BeFree | Relationship between genetic polymorphism of CYP1A1 at codon 462 (Ile462Val) in colorectal cancer. | 0.007328931 | 2008 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 21246002 | 1543 | CYP1A1 | umls:C1527249 | BeFree | CYP1A1 Ile462Val polymorphism contributes to colorectal cancer risk: a meta-analysis. | 0.071510236 | 2011 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 24939416 | 1543 | CYP1A1 | umls:C0009402 | BeFree | CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. | 0.007328931 | 2014 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 21246002 | 1543 | CYP1A1 | umls:C0009402 | BeFree | CYP1A1 Ile462Val polymorphism contributes to colorectal cancer risk: a meta-analysis. | 0.007328931 | 2011 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 24939416 | 1543 | CYP1A1 | umls:C1527249 | BeFree | CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. | 0.071510236 | 2014 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048945 | 21037106 | 328 | APEX1 | umls:C0009402 | BeFree | Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared with carriers of the Gln/Gln genotype (odds ratio (OR) = 0.15, 95% CI = 0.03-0.69, P = 0.015). | 0.002714419 | 2010 | APEX1;OSGEP | 14 | 20456008 | G | C |
| rs1048945 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | APEX1;OSGEP | 14 | 20456008 | G | C |
| rs1048945 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | APEX1;OSGEP | 14 | 20456008 | G | C |
| rs1048945 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | APEX1;OSGEP | 14 | 20456008 | G | C |
| rs1048945 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | APEX1;OSGEP | 14 | 20456008 | G | C |
| rs1048945 | 21037106 | 328 | APEX1 | umls:C1527249 | BeFree | Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared with carriers of the Gln/Gln genotype (odds ratio (OR) = 0.15, 95% CI = 0.03-0.69, P = 0.015). | 0.011911105 | 2010 | APEX1;OSGEP | 14 | 20456008 | G | C |
| rs10505477 | 25302443 | 727677 | CASC8 | umls:C0009402 | 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 |
| rs10505477 | 23677573 | 5460 | POU5F1 | umls:C0009402 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.001900093 | 2013 | CASC8 | 8 | 127395198 | A | G |
| rs10505477 | 23677573 | 5460 | POU5F1 | umls:C1527249 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.001900093 | 2013 | CASC8 | 8 | 127395198 | A | G |
| rs10505477 | 23677573 | 9734 | HDAC9 | umls:C0009402 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.001628651 | 2013 | CASC8 | 8 | 127395198 | A | G |
| rs10505477 | 25302443 | 727677 | CASC8 | umls:C1527249 | 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 |
| rs10505477 | 23677573 | 9734 | HDAC9 | umls:C1527249 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.003995683 | 2013 | CASC8 | 8 | 127395198 | A | G |
| rs1051208 | 22939228 | 5894 | RAF1 | umls:C1527249 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.003800186 | 2012 | RAF1 | 3 | 12584248 | G | A |
| rs1051208 | 22939228 | 3691 | ITGB4 | umls:C1527249 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.000542884 | 2012 | RAF1 | 3 | 12584248 | G | A |
| rs1051208 | 22939228 | 5894 | RAF1 | umls:C0009402 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.003800186 | 2012 | RAF1 | 3 | 12584248 | G | A |
| rs1051208 | 22939228 | 3691 | ITGB4 | umls:C0009402 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.000542884 | 2012 | RAF1 | 3 | 12584248 | G | A |
| rs1051690 | 20971123 | 942 | CD86 | umls:C1527249 | BeFree | Polymorphisms affecting micro-RNA regulation and associated with the risk of dietary-related cancers: a review from the literature and new evidence for a functional role of rs17281995 (CD86) and rs1051690 (INSR), previously associated with colorectal cancer. | 0.003181358 | 2011 | INSR | 19 | 7116952 | T | C |
| rs1051690 | 20971123 | 942 | CD86 | umls:C0009402 | BeFree | Polymorphisms affecting micro-RNA regulation and associated with the risk of dietary-related cancers: a review from the literature and new evidence for a functional role of rs17281995 (CD86) and rs1051690 (INSR), previously associated with colorectal cancer. | 0.000814326 | 2011 | INSR | 19 | 7116952 | T | C |
| rs1051740 | 22415791 | 2052 | EPHX1 | umls:C1527249 | BeFree | We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms and assessed effect modifications of cigarette smoking and the other covariates. | 0.032671509 | 2013 | EPHX1 | 1 | 225831932 | T | C |
| rs1051740 | 22415791 | 2052 | EPHX1 | umls:C0009402 | BeFree | We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms and assessed effect modifications of cigarette smoking and the other covariates. | 0.002171535 | 2013 | EPHX1 | 1 | 225831932 | T | C |
| rs1052133 | 21695387 | 4968 | OGG1 | umls:C0009402 | BeFree | Association of OGG1 Ser326Cys polymorphism with colorectal cancer risk: a meta-analysis. | 0.006243163 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 25227662 | 4968 | OGG1 | umls:C0009402 | BeFree | Association of hOGG1 Ser326Cys polymorphism with colorectal cancer risk: an updated meta-analysis including 5235 cases and 8438 controls. | 0.006243163 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 23975367 | 4968 | OGG1 | umls:C1527249 | BeFree | The meta-analysis suggests that OGG1 rs1052133 polymorphism is significantly associated with the risk of colorectal cancer in Caucasian population. | 0.029642041 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21899442 | 4968 | OGG1 | umls:C1527249 | BeFree | DNA repair gene 8-oxoguanine DNA glycosylase Ser326Cys polymorphism and colorectal cancer risk in a Kashmiri population. | 0.029642041 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 25323581 | 4968 | OGG1 | umls:C0009402 | BeFree | In subgroup analyses by cancer types, we found that the hOGG1 Ser326Cys polymorphism may increase hepatocellular cancer and colorectal cancer risks, but decrease the risk of oral cancer. | 0.006243163 | 2014 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 16609022 | 4968 | OGG1 | umls:C1527249 | BeFree | Polymorphism OGG1 S326C was associated with an increased risk of colorectal cancer [odds ratio (OR), 2.3; 95% confidence interval (95% CI), 1.1-5.0], the risk being higher in younger individuals. | 0.029642041 | 2006 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 15946795 | 4968 | OGG1 | umls:C1527249 | BeFree | GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer. | 0.029642041 | 2005 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 17991492 | 4968 | OGG1 | umls:C1527249 | BeFree | The analysis of binary genotype combinations showed increased colorectal cancer risk in individuals simultaneously homozygous for the variant alleles of APE1 Asn148Glu and hOGG1 Ser326Cys (OR: 6.37; 95% CI: 1.40-29.02; p=0.02). | 0.029642041 | 2008 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 25227662 | 4968 | OGG1 | umls:C1527249 | BeFree | Association of hOGG1 Ser326Cys polymorphism with colorectal cancer risk: an updated meta-analysis including 5235 cases and 8438 controls. | 0.029642041 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 15946795 | 4968 | OGG1 | umls:C0009402 | BeFree | GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer. | 0.006243163 | 2005 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 25323581 | 4968 | OGG1 | umls:C1527249 | BeFree | In subgroup analyses by cancer types, we found that the hOGG1 Ser326Cys polymorphism may increase hepatocellular cancer and colorectal cancer risks, but decrease the risk of oral cancer. | 0.029642041 | 2014 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 17991492 | 328 | APEX1 | umls:C0009402 | BeFree | The analysis of binary genotype combinations showed increased colorectal cancer risk in individuals simultaneously homozygous for the variant alleles of APE1 Asn148Glu and hOGG1 Ser326Cys (OR: 6.37; 95% CI: 1.40-29.02; p=0.02). | 0.002714419 | 2008 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 17991492 | 328 | APEX1 | umls:C1527249 | BeFree | The analysis of binary genotype combinations showed increased colorectal cancer risk in individuals simultaneously homozygous for the variant alleles of APE1 Asn148Glu and hOGG1 Ser326Cys (OR: 6.37; 95% CI: 1.40-29.02; p=0.02). | 0.011911105 | 2008 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21899442 | 4968 | OGG1 | umls:C0009402 | BeFree | DNA repair gene 8-oxoguanine DNA glycosylase Ser326Cys polymorphism and colorectal cancer risk in a Kashmiri population. | 0.006243163 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 16609022 | 4968 | OGG1 | umls:C0009402 | BeFree | Polymorphism OGG1 S326C was associated with an increased risk of colorectal cancer [odds ratio (OR), 2.3; 95% confidence interval (95% CI), 1.1-5.0], the risk being higher in younger individuals. | 0.006243163 | 2006 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 17991492 | 4968 | OGG1 | umls:C0009402 | BeFree | The analysis of binary genotype combinations showed increased colorectal cancer risk in individuals simultaneously homozygous for the variant alleles of APE1 Asn148Glu and hOGG1 Ser326Cys (OR: 6.37; 95% CI: 1.40-29.02; p=0.02). | 0.006243163 | 2008 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21695387 | 4968 | OGG1 | umls:C1527249 | BeFree | Association of OGG1 Ser326Cys polymorphism with colorectal cancer risk: a meta-analysis. | 0.029642041 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 23975367 | 4968 | OGG1 | umls:C0009402 | BeFree | The meta-analysis suggests that OGG1 rs1052133 polymorphism is significantly associated with the risk of colorectal cancer in Caucasian population. | 0.006243163 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 22526153 | 4968 | OGG1 | umls:C1527249 | BeFree | Meta-analysis of the association between hOGG1 Ser326Cys polymorphism and risk of colorectal cancer based on case--control studies. | 0.029642041 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 22526153 | 4968 | OGG1 | umls:C0009402 | BeFree | Meta-analysis of the association between hOGG1 Ser326Cys polymorphism and risk of colorectal cancer based on case--control studies. | 0.006243163 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052918 | 23940558 | 6929 | TCF3 | umls:C0009402 | BeFree | Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | 0.001085767 | 2013 | TCF3 | 19 | 1609670 | T | C |
| rs1052918 | 23940558 | 6892 | TAPBP | umls:C1527249 | BeFree | Finally, we determined that rs3106189, localized to the 5' UTR of antigen presenting tapasin binding protein (TAPBP), and rs1052918, localized to the 3' UTR of transcription factor 3 (TCF3), were associated with overall survival of CRC patients. | 0.000271442 | 2013 | TCF3 | 19 | 1609670 | T | C |
| rs1052918 | 23940558 | 6892 | TAPBP | umls:C0009402 | BeFree | Finally, we determined that rs3106189, localized to the 5' UTR of antigen presenting tapasin binding protein (TAPBP), and rs1052918, localized to the 3' UTR of transcription factor 3 (TCF3), were associated with overall survival of CRC patients. | 0.000271442 | 2013 | TCF3 | 19 | 1609670 | T | C |
| rs1052918 | 23940558 | 6929 | TCF3 | umls:C1527249 | BeFree | Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | 0.001085767 | 2013 | TCF3 | 19 | 1609670 | T | C |
| rs1056836 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 22190224 | 1545 | CYP1B1 | umls:C0009402 | BeFree | CYP1B1 Leu432Val polymorphism and colorectal cancer risk among Caucasians: a meta-analysis. | 0.003257302 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1056836 | 22190224 | 1545 | CYP1B1 | umls:C1527249 | BeFree | CYP1B1 Leu432Val polymorphism and colorectal cancer risk among Caucasians: a meta-analysis. | 0.029837538 | 2012 | CYP1B1 | 2 | 38071060 | G | C |
| rs1057035 | 23441612 | 23405 | DICER1 | umls:C1527249 | BeFree | Finally, we observed that homozygous CC genotype of DICER1, rs1057035, was significantly associated with decreased risk of CRC (odds ratio = 0.49; 95% confidence interval: 0.25-0.95, P = 0.036) when compared to TT homozygote genotype; also, the C allele tended to have a protective effect (P = 0.072). | 0.001085767 | 2013 | DICER1 | 14 | 95087805 | T | C |
| rs1057035 | 23441612 | 23405 | DICER1 | umls:C0009402 | BeFree | Finally, we observed that homozygous CC genotype of DICER1, rs1057035, was significantly associated with decreased risk of CRC (odds ratio = 0.49; 95% confidence interval: 0.25-0.95, P = 0.036) when compared to TT homozygote genotype; also, the C allele tended to have a protective effect (P = 0.072). | 0.001085767 | 2013 | DICER1 | 14 | 95087805 | T | C |
| rs10795668 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22363440 | 509 | ATP5C1 | umls:C0009402 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 24968322 | 894 | CCND2 | umls:C1527249 | BeFree | We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly associated with CRC risk in the Taiwanese population. | 0.120542884 | 2014 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 23875689 | 4092 | SMAD7 | umls:C0009402 | BeFree | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. | 0.009229024 | 2013 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22363440 | 509 | ATP5C1 | umls:C1527249 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22363440 | 9787 | DLGAP5 | umls:C1527249 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22363440 | 9787 | DLGAP5 | umls:C0009402 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 23875689 | 4092 | SMAD7 | umls:C1527249 | BeFree | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. | 0.162367471 | 2013 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 24968322 | 894 | CCND2 | umls:C0009402 | BeFree | We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly associated with CRC risk in the Taiwanese population. | 0.000271442 | 2014 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 18372905 | 8667 | EIF3H | umls:C0009402 | BeFree | In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. | 0.000814326 | 2008 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | LOC105376400 | 10 | 8659256 | G | A |
| rs10795668 | 18372905 | 8667 | EIF3H | umls:C1527249 | BeFree | In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. | 0.010282454 | 2008 | LOC105376400 | 10 | 8659256 | G | A |
| rs10891246 | 24256810 | 120376 | COLCA2 | umls:C1527249 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.121085767 | 2014 | COLCA2;COLCA1 | 11 | 111299815 | A | G |
| rs10891246 | 24256810 | 399948 | COLCA1 | umls:C1527249 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.125276948 | 2014 | COLCA2;COLCA1 | 11 | 111299815 | A | G |
| rs10891246 | 24256810 | 341032 | C11orf53 | umls:C0009402 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.000271442 | 2014 | COLCA2;COLCA1 | 11 | 111299815 | A | G |
| rs10891246 | 24256810 | 120376 | COLCA2 | umls:C0009402 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.001085767 | 2014 | COLCA2;COLCA1 | 11 | 111299815 | A | G |
| rs10891246 | 24256810 | 399948 | COLCA1 | umls:C0009402 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.000542884 | 2014 | COLCA2;COLCA1 | 11 | 111299815 | A | G |
| rs10891246 | 24256810 | 341032 | C11orf53 | umls:C1527249 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.002638474 | 2014 | COLCA2;COLCA1 | 11 | 111299815 | A | G |
| rs10911251 | 23266556 | 3915 | LAMC1 | umls:C1527249 | GWASCAT | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | 0.12 | 2013 | LAMC1 | 1 | 183112059 | A | C |
| rs10929251 | 24822274 | 54575 | UGT1A10 | umls:C1527249 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | UGT1A10;UGT1A8 | 2 | 233637583 | A | G |
| rs10929251 | 24822274 | 54575 | UGT1A10 | umls:C0009402 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | UGT1A10;UGT1A8 | 2 | 233637583 | A | G |
| rs10936599 | 20972440 | 55892 | MYNN | umls:C1527249 | GWASCAT | Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. | 0.12 | 2010 | MYNN | 3 | 169774313 | C | T |
| rs10970985 | 24536049 | 48 | ACO1 | umls:C1527249 | BeFree | Heme iron was positively associated with colorectal cancer among those with GG genotypes for ACO1 rs10970985 (ORQ4-Q 1 = 2.45, 95% CI 3.40-8.06, Ptrend = 0.004; Pinteraction = 0.05). | 0.000271442 | 2014 | LOC105376014 | 9 | 32453121 | C | G |
| rs10970985 | 24536049 | 48 | ACO1 | umls:C0009402 | BeFree | Heme iron was positively associated with colorectal cancer among those with GG genotypes for ACO1 rs10970985 (ORQ4-Q 1 = 2.45, 95% CI 3.40-8.06, Ptrend = 0.004; Pinteraction = 0.05). | 0.000271442 | 2014 | LOC105376014 | 9 | 32453121 | C | G |
| rs11014993 | 20610541 | 1457 | CSNK2A1 | umls:C0009402 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000814326 | 2010 | MYO3A;LOC105376458 | 10 | 26194254 | T | C |
| rs11014993 | 20610541 | 1459 | CSNK2A2 | umls:C1527249 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000542884 | 2010 | MYO3A;LOC105376458 | 10 | 26194254 | T | C |
| rs11014993 | 20610541 | 53904 | MYO3A | umls:C1527249 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.002638474 | 2010 | MYO3A;LOC105376458 | 10 | 26194254 | T | C |
| rs11014993 | 20610541 | 53904 | MYO3A | umls:C0009402 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000271442 | 2010 | MYO3A;LOC105376458 | 10 | 26194254 | T | C |
| rs11014993 | 20610541 | 1459 | CSNK2A2 | umls:C0009402 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000542884 | 2010 | MYO3A;LOC105376458 | 10 | 26194254 | T | C |
| rs11014993 | 20610541 | 1457 | CSNK2A1 | umls:C1527249 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.002909916 | 2010 | MYO3A;LOC105376458 | 10 | 26194254 | T | C |
| rs11072508 | 21081473 | 1544 | CYP1A2 | umls:C0009402 | BeFree | CYP1A2 rs11072508 was marginally significantly associated with CRC, where each copy of the T allele was associated with reduced risk (OR: 0.72, 95% CI: 0.58-0.88, P(trend) = 0.0017). | 0.005157396 | 2011 | NA | 15 | 74770056 | C | T |
| rs11072508 | 21081473 | 1544 | CYP1A2 | umls:C1527249 | BeFree | CYP1A2 rs11072508 was marginally significantly associated with CRC, where each copy of the T allele was associated with reduced risk (OR: 0.72, 95% CI: 0.58-0.88, P(trend) = 0.0017). | 0.045939823 | 2011 | NA | 15 | 74770056 | C | T |
| rs11196172 | 24836286 | 6934 | TCF7L2 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.135863181 | 2014 | TCF7L2 | 10 | 112967084 | G | A |
| rs112445441 | 25367198 | 3845 | KRAS | umls:C0009402 | BeFree | Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. | 0.082367032 | 2014 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25609577 | 1956 | EGFR | umls:C1527249 | BeFree | KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, and featuring a heterogeneous spatial distribution, that may have a role to predict the response to EGFR inhibitors. | 0.108132349 | 2015 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25367198 | 673 | BRAF | umls:C1527249 | BeFree | Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. | 0.274375073 | 2014 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25609577 | 3845 | KRAS | umls:C0009402 | BeFree | KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, and featuring a heterogeneous spatial distribution, that may have a role to predict the response to EGFR inhibitors. | 0.082367032 | 2015 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23209813 | 1738 | DLD | umls:C1527249 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.007057489 | 2012 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25359494 | 3845 | KRAS | umls:C0009402 | BeFree | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with valine mutation at codon 12) and KRas G13D (Kirsten rat sarcoma viral oncogene homolog with aspartic mutation at codon 13) oncogenes in an orthotopic colorectal cancer (CRC) model. | 0.082367032 | 2015 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 20978259 | 3845 | KRAS | umls:C1527249 | BeFree | In this analysis, use of cetuximab was associated with longer overall and progression-free survival among patients with chemotherapy-refractory colorectal cancer with p.G13D-mutated tumors than with other KRAS-mutated tumors. | 0.16 | 2010 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23209813 | 60343 | FAM3A | umls:C1527249 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.007057489 | 2012 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23209813 | 197257 | LDHD | umls:C0009402 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.009500466 | 2012 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23209813 | 1738 | DLD | umls:C0009402 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.009500466 | 2012 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25609577 | 1956 | EGFR | umls:C0009402 | BeFree | KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, and featuring a heterogeneous spatial distribution, that may have a role to predict the response to EGFR inhibitors. | 0.08 | 2015 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25359494 | 3845 | KRAS | umls:C1527249 | BeFree | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with valine mutation at codon 12) and KRas G13D (Kirsten rat sarcoma viral oncogene homolog with aspartic mutation at codon 13) oncogenes in an orthotopic colorectal cancer (CRC) model. | 0.16 | 2015 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23015072 | 3845 | KRAS | umls:C1527249 | BeFree | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines. | 0.16 | 2013 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23209813 | 60343 | FAM3A | umls:C0009402 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.009500466 | 2012 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23015072 | 3845 | KRAS | umls:C0009402 | BeFree | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines. | 0.082367032 | 2013 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23015072 | 1956 | EGFR | umls:C0009402 | BeFree | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines. | 0.08 | 2013 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 20978259 | 3845 | KRAS | umls:C0009402 | BeFree | In this analysis, use of cetuximab was associated with longer overall and progression-free survival among patients with chemotherapy-refractory colorectal cancer with p.G13D-mutated tumors than with other KRAS-mutated tumors. | 0.082367032 | 2010 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23209813 | 197257 | LDHD | umls:C1527249 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.007057489 | 2012 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25367198 | 3845 | KRAS | umls:C1527249 | BeFree | Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. | 0.16 | 2014 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 23015072 | 1956 | EGFR | umls:C1527249 | BeFree | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines. | 0.108132349 | 2013 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25609577 | 3845 | KRAS | umls:C1527249 | BeFree | KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, and featuring a heterogeneous spatial distribution, that may have a role to predict the response to EGFR inhibitors. | 0.16 | 2015 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 25367198 | 673 | BRAF | umls:C0009402 | BeFree | Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. | 0.074103631 | 2014 | KRAS | 12 | 25245347 | C | A,G,T |
| rs1130409 | 18823566 | 4595 | MUTYH | umls:C1527249 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.105527684 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18823566 | 328 | APEX1 | umls:C0009402 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.002714419 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24254302 | 328 | APEX1 | umls:C1527249 | BeFree | The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-analysis. | 0.011911105 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18823566 | 4595 | MUTYH | umls:C0009402 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.027687071 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25268610 | 328 | APEX1 | umls:C0009402 | BeFree | Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients with colorectal cancer. | 0.002714419 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 18823566 | 328 | APEX1 | umls:C1527249 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.011911105 | 2008 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25268610 | 4968 | OGG1 | umls:C1527249 | BeFree | Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients with colorectal cancer. | 0.029642041 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25024628 | 7515 | XRCC1 | umls:C1527249 | BeFree | APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC1 Arg399Gln and CRC risk in the Chinese Han population. | 0.062389495 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25024628 | 7515 | XRCC1 | umls:C0009402 | BeFree | APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC1 Arg399Gln and CRC risk in the Chinese Han population. | 0.012681823 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25268610 | 328 | APEX1 | umls:C1527249 | BeFree | Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients with colorectal cancer. | 0.011911105 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 24254302 | 328 | APEX1 | umls:C0009402 | BeFree | The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-analysis. | 0.002714419 | 2013 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25268610 | 142 | PARP1 | umls:C1527249 | BeFree | Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients with colorectal cancer. | 0.01062984 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25268610 | 4968 | OGG1 | umls:C0009402 | BeFree | Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients with colorectal cancer. | 0.006243163 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 25268610 | 142 | PARP1 | umls:C0009402 | BeFree | Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients with colorectal cancer. | 0.003257302 | 2014 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1130409 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs1131620 | 19998449 | 8425 | LTBP4 | umls:C0009402 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.000542884 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 5045 | FURIN | umls:C0009402 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.000542884 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 8425 | LTBP4 | umls:C1527249 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.002909916 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 25805 | BAMBI | umls:C1527249 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.002909916 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 25805 | BAMBI | umls:C0009402 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.000814326 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 7046 | TGFBR1 | umls:C1527249 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.024365093 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 7046 | TGFBR1 | umls:C0009402 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.005428837 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs1131620 | 19998449 | 5045 | FURIN | umls:C1527249 | BeFree | The observed statistically significant associations included a decreased CRC risk for TGFBR1 IVS7G+24A minor allele carriers (odds ratio (OR): 0.72, 95% confidence interval (CI): 0.53-0.97), less aggressive tumors with Dukes' stage A+B for carriers of LTBP4 Thr750Ala and BAMBI T-779A minor alleles (OR: 0.58, 95%CI: 0.36-0.93 and OR: 0.51, 95%CI: 0.29-0.89, respectively) and worse survival for FURIN C-229T heterozygotes (hazard ratio: 1.63, 95%CI: 1.08-2.46). | 0.002909916 | 2010 | LTBP4 | 19 | 40611963 | A | G |
| rs113488022 | 18428050 | 673 | BRAF | umls:C0009402 | BeFree | Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors. | 0.074103631 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25549141 | 673 | BRAF | umls:C0009402 | BeFree | To summarize the usefulness of several recently discovered immunohistochemical markers in the study of gastrointestinal and liver tumors; to suggest the most current and effective immunohistochemical panels addressing common diagnostic challenges for these tumors; to share practical experience and useful tips for human epidermal growth factor receptor 2 testing in gastric and gastroesophageal junction adenocarcinoma and v-raf murine sarcoma viral oncogene homolog B V600E immunohistochemistry in colorectal carcinoma. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24242331 | 3845 | KRAS | umls:C1527249 | BeFree | miRNA array analysis revealed that microRNA-31 (miR-31)-5p was the most up-regulated miRNA in CRCs with mutated BRAF (V600E) compared with CRCs possessing wild-type BRAF (including cases with KRAS mutation). | 0.16 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18806830 | 5595 | MAPK3 | umls:C1527249 | BeFree | Colorectal cancer cells with the BRAF(V600E) mutation are addicted to the ERK1/2 pathway for growth factor-independent survival and repression of BIM. | 0.002985861 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23887157 | 6737 | TRIM21 | umls:C0009402 | BeFree | We demonstrate that SSA-associated synchronous colorectal carcinomas have a striking predilection for elderly women, are associated with a favorable prognosis, and are MSI-H and BRAF V600E positive. | 0.000814326 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17942460 | 673 | BRAF | umls:C1527249 | BeFree | The BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5291 | PIK3CB | umls:C1527249 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.011943442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24768606 | 673 | BRAF | umls:C0009402 | BeFree | We have prospectively studied a series of 1624 consecutive colorectal carcinomas with an algorithm including immunohistochemical analysis of mismatch repair proteins and molecular study of microsatellite instability and BRAF c.1799 T > A (p.V600E) gene mutations. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24833563 | 673 | BRAF | umls:C1527249 | BeFree | Since RAC1b has been associated with the BRAF(V600E) mutation, associated with poor prognosis in CRC, we evaluated the role of RAC1b expression as a predictor of chemotherapy efficacy in mCRC. | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24248543 | 673 | BRAF | umls:C0009402 | BeFree | In conclusion, miR-145 might be used as a therapeutic target in the treatment of colorectal cancer patients with BRAF V600E mutation. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20616366 | 5424 | POLD1 | umls:C1527249 | BeFree | The use of COLD-PCR in apparently wild-type samples allowed us to identify 15 newly mutated CRCs (10 for KRAS and 5 for BRAF (V600E)), raising the percentage of mutated CRCs to 48.7% for KRAS and to 12.8% for BRAF (V600E). | 0.001900093 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25862899 | 673 | BRAF | umls:C1527249 | BeFree | BRAF V600E mutation in colorectal cancer is associated with right-sided tumours and iron deficiency anaemia. | 0.274375073 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18806830 | 5595 | MAPK3 | umls:C0009402 | BeFree | Colorectal cancer cells with the BRAF(V600E) mutation are addicted to the ERK1/2 pathway for growth factor-independent survival and repression of BIM. | 0.003257302 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 1956 | EGFR | umls:C0009402 | 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. | 0.08 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24242331 | 407035 | MIR31 | umls:C1527249 | BeFree | miRNA array analysis revealed that microRNA-31 (miR-31)-5p was the most up-regulated miRNA in CRCs with mutated BRAF (V600E) compared with CRCs possessing wild-type BRAF (including cases with KRAS mutation). | 0.003800186 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25624727 | 673 | BRAF | umls:C0009402 | BeFree | To determine the prognostic significance of deficient mismatch repair (dMMR) and BRAF V600E in Thai sporadic colorectal cancer (CRC) patients. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24767862 | 3845 | KRAS | umls:C0009402 | BeFree | The aim of our study was to test sebaceous neoplasms for V600E BRAF or KRAS mutations to determine if these mutations are associated with somatic or germline MMR defects, analogous to colorectal carcinomas. | 0.082367032 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20197478 | 673 | BRAF | umls:C0009402 | BeFree | The aim of this study was to relate the CpG island methylator phenotype (CIMP; characterized by extensive promoter hypermethylation) to cancer-specific survival in colorectal cancer, taking into consideration relevant clinicopathologic factors, such as microsatellite instability (MSI) screening status and the BRAF V600E mutation. | 0.074103631 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23406774 | 673 | BRAF | umls:C1527249 | BeFree | The V600E mutation of BRAF was initially described in 2002 and has been found at particularly high frequency in melanoma and certain subtypes of colorectal cancer. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25549141 | 2064 | ERBB2 | umls:C0009402 | BeFree | To summarize the usefulness of several recently discovered immunohistochemical markers in the study of gastrointestinal and liver tumors; to suggest the most current and effective immunohistochemical panels addressing common diagnostic challenges for these tumors; to share practical experience and useful tips for human epidermal growth factor receptor 2 testing in gastric and gastroesophageal junction adenocarcinoma and v-raf murine sarcoma viral oncogene homolog B V600E immunohistochemistry in colorectal carcinoma. | 0.013843535 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17942460 | 4292 | MLH1 | umls:C1527249 | BeFree | The BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs. | 0.16 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18096441 | 673 | BRAF | umls:C1527249 | BeFree | BRAF V600E mutation was analyzed in CRC patients with MMR deficiencies (microsatellite instability and/or lack of MLH1/MSH2 protein expression) in the EPICOLON population-based study. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 7157 | TP53 | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.16 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25280751 | 673 | BRAF | umls:C0009402 | BeFree | Tumour DNA was extracted (formalin fixed, paraffin embedded, FFPE tissue) and pyrosequencing used to test for MLH1 promoter methylation and presence of the BRAF c.1799T>A, p.(Val600Glu) mutation 71 CRCs from individuals with pathogenic MLH1 mutations and 73 CRCs with sporadic MLH1 loss. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20027224 | 3490 | IGFBP7 | umls:C0009402 | BeFree | CIMP-specific inactivation of BRAF(V600E)-induced senescence and apoptosis pathways by IGFBP7 DNA hypermethylation might create a favorable context for the acquisition of BRAF(V600E) in CIMP+ colorectal cancer. | 0.002985861 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25280751 | 4292 | MLH1 | umls:C1527249 | BeFree | Tumour DNA was extracted (formalin fixed, paraffin embedded, FFPE tissue) and pyrosequencing used to test for MLH1 promoter methylation and presence of the BRAF c.1799T>A, p.(Val600Glu) mutation 71 CRCs from individuals with pathogenic MLH1 mutations and 73 CRCs with sporadic MLH1 loss. | 0.16 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23341544 | 2321 | FLT1 | umls:C0009402 | BeFree | We used preclinical models of CRC to demonstrate (18)F-FLT PET as a sensitive predictor of response to (V600E)BRAF inhibitors. | 0.002985861 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24166180 | 673 | BRAF | umls:C0009402 | BeFree | These results seem to indicate that Cdx2 may play a role in the serrated pathway to colorectal cancer as underlined by strong relationships with BRAF(V600E), CIMP-high and MMR-deficiency. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25280751 | 4292 | MLH1 | umls:C0009402 | BeFree | Tumour DNA was extracted (formalin fixed, paraffin embedded, FFPE tissue) and pyrosequencing used to test for MLH1 promoter methylation and presence of the BRAF c.1799T>A, p.(Val600Glu) mutation 71 CRCs from individuals with pathogenic MLH1 mutations and 73 CRCs with sporadic MLH1 loss. | 0.082367032 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 5290 | PIK3CA | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.030130048 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23887157 | 811 | CALR | umls:C0009402 | BeFree | We demonstrate that SSA-associated synchronous colorectal carcinomas have a striking predilection for elderly women, are associated with a favorable prognosis, and are MSI-H and BRAF V600E positive. | 0.001085767 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25219500 | 673 | BRAF | umls:C1527249 | BeFree | Through an RNAi screen, here we identify the transcriptional repressor MAFG as the pivotal factor required for MLH1 silencing and CIMP in CRCs containing BRAF(V600E). | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15782118 | 4292 | MLH1 | umls:C1527249 | BeFree | The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6. | 0.16 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19190129 | 3845 | KRAS | umls:C0009402 | BeFree | Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. | 0.082367032 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19190129 | 673 | BRAF | umls:C0009402 | BeFree | Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. | 0.074103631 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25318602 | 673 | BRAF | umls:C1527249 | BeFree | Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens. | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 2064 | ERBB2 | umls:C0009402 | 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. | 0.013843535 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17119056 | 673 | BRAF | umls:C0009402 | BeFree | Somatic BRAF-V600E mutations in familial colorectal cancer. | 0.074103631 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25624727 | 673 | BRAF | umls:C1527249 | BeFree | To determine the prognostic significance of deficient mismatch repair (dMMR) and BRAF V600E in Thai sporadic colorectal cancer (CRC) patients. | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25613750 | 673 | BRAF | umls:C1527249 | BeFree | We hypothesized it would be more commonly methylated and inactivated in serrated pathway colorectal cancers that are hallmarked by a BRAF V600E mutation and a methylator phenotype, compared to traditional pathway cancers that are BRAF wild type. | 0.274375073 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15782118 | 4292 | MLH1 | umls:C0009402 | BeFree | The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6. | 0.082367032 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 673 | BRAF | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23462926 | 673 | BRAF | umls:C1527249 | BeFree | Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21102416 | 673 | BRAF | umls:C0009402 | BeFree | We previously reported the concurrent methylation of the mismatch repair gene MLH1 with a cluster of flanking genes in chromosome region 3p22 in sporadic colorectal carcinoma exhibiting microsatellite instability and the BRAF V600E mutation. | 0.074103631 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 5293 | PIK3CD | umls:C1527249 | BeFree | We conducted comparative proteomic analysis of BRAF(V600E) melanoma and CRC cell lines, followed by correlation of phosphoinositide 3-kinase (PI3K) pathway activation and sensitivity to the vemurafenib analogue PLX4720. | 0.012486326 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21681432 | 673 | BRAF | umls:C0009402 | BeFree | Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. | 0.074103631 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25219500 | 4097 | MAFG | umls:C1527249 | BeFree | Through an RNAi screen, here we identify the transcriptional repressor MAFG as the pivotal factor required for MLH1 silencing and CIMP in CRCs containing BRAF(V600E). | 0.000542884 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5291 | PIK3CB | umls:C0009402 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.011672 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15782118 | 673 | BRAF | umls:C0009402 | BeFree | The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6. | 0.074103631 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17065421 | 673 | BRAF | umls:C1527249 | BeFree | Detection of BRAF V600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology. | 0.274375073 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20027224 | 3490 | IGFBP7 | umls:C1527249 | BeFree | CIMP-specific inactivation of BRAF(V600E)-induced senescence and apoptosis pathways by IGFBP7 DNA hypermethylation might create a favorable context for the acquisition of BRAF(V600E) in CIMP+ colorectal cancer. | 0.002714419 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 5291 | PIK3CB | umls:C1527249 | BeFree | We conducted comparative proteomic analysis of BRAF(V600E) melanoma and CRC cell lines, followed by correlation of phosphoinositide 3-kinase (PI3K) pathway activation and sensitivity to the vemurafenib analogue PLX4720. | 0.011943442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21681432 | 673 | BRAF | umls:C1527249 | BeFree | Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. | 0.274375073 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5290 | PIK3CA | umls:C0009402 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.030130048 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5290 | PIK3CA | umls:C1527249 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.192269685 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23880961 | 4292 | MLH1 | umls:C0009402 | BeFree | A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. | 0.082367032 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18806830 | 10018 | BCL2L11 | umls:C0009402 | BeFree | Colorectal cancer cells with the BRAF(V600E) mutation are addicted to the ERK1/2 pathway for growth factor-independent survival and repression of BIM. | 0.000271442 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5294 | PIK3CG | umls:C1527249 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.011943442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21516079 | 673 | BRAF | umls:C0009402 | BeFree | Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. | 0.074103631 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23341544 | 2321 | FLT1 | umls:C1527249 | BeFree | We used preclinical models of CRC to demonstrate (18)F-FLT PET as a sensitive predictor of response to (V600E)BRAF inhibitors. | 0.002171535 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5293 | PIK3CD | umls:C1527249 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.012486326 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 5624 | PROC | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.051845398 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22481281 | 673 | BRAF | umls:C0009402 | BeFree | BRAF V600E mutations were not identified in the early-onset colorectal carcinoma group. | 0.074103631 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21457162 | 4255 | MGMT | umls:C0009402 | BeFree | KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-serrated colorectal carcinomas (CRCs) and nine adenomas. | 0.014386419 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 3845 | KRAS | umls:C0009402 | 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. | 0.082367032 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18806830 | 10018 | BCL2L11 | umls:C1527249 | BeFree | Colorectal cancer cells with the BRAF(V600E) mutation are addicted to the ERK1/2 pathway for growth factor-independent survival and repression of BIM. | 0.000271442 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 324 | APC | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.24 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18428050 | 5609 | MAP2K7 | umls:C0009402 | BeFree | Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors. | 0.004071628 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25862899 | 673 | BRAF | umls:C0009402 | BeFree | BRAF V600E mutation in colorectal cancer is associated with right-sided tumours and iron deficiency anaemia. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15342696 | 4436 | MSH2 | umls:C1527249 | BeFree | BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2. | 0.14378884 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24085553 | 673 | BRAF | umls:C0009402 | BeFree | Ultra-deep sequencing confirms immunohistochemistry as a highly sensitive and specific method for detecting BRAF V600E mutations in colorectal carcinoma. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20489114 | 4292 | MLH1 | umls:C0009402 | BeFree | The aim of this study is to compare the utility of methylation analysis of MLH1 and BRAF V600E mutations for the selection of patients with MLH1 negative colorectal cancer for genetic testing. | 0.082367032 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23650027 | 673 | BRAF | umls:C1527249 | BeFree | Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 3845 | KRAS | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.082367032 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24833563 | 673 | BRAF | umls:C0009402 | BeFree | Since RAC1b has been associated with the BRAF(V600E) mutation, associated with poor prognosis in CRC, we evaluated the role of RAC1b expression as a predictor of chemotherapy efficacy in mCRC. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 3845 | KRAS | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.16 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23880961 | 4292 | MLH1 | umls:C1527249 | BeFree | A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. | 0.16 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21587258 | 7474 | WNT5A | umls:C1527249 | BeFree | Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. | 0.002171535 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 673 | BRAF | umls:C1527249 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19190129 | 673 | BRAF | umls:C1527249 | BeFree | Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. | 0.274375073 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22210186 | 673 | BRAF | umls:C0009402 | BeFree | High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. | 0.074103631 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20616366 | 100271691 | CRCS10 | umls:C1527249 | BeFree | The use of COLD-PCR in apparently wild-type samples allowed us to identify 15 newly mutated CRCs (10 for KRAS and 5 for BRAF (V600E)), raising the percentage of mutated CRCs to 48.7% for KRAS and to 12.8% for BRAF (V600E). | 0.000271442 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 673 | BRAF | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.274375073 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24767862 | 673 | BRAF | umls:C0009402 | BeFree | The aim of our study was to test sebaceous neoplasms for V600E BRAF or KRAS mutations to determine if these mutations are associated with somatic or germline MMR defects, analogous to colorectal carcinomas. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24925223 | 673 | BRAF | umls:C0009402 | BeFree | When subclassified by combined BRAF V600E mutation and MMR status, loss of ARID1A expression was found most commonly in CRCs with the BRAF V600E mutated, MMR- deficient phenotype (58 of 232 cases, 25%, P < .01). | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22314188 | 673 | BRAF | umls:C0009402 | BeFree | The association of BRAF V600E mutation and the presence of the CpG island methylator phenotype (CIMP) and microsatellite instability (MSI) often confound analysis of BRAF mutation status and survival in colorectal carcinoma. | 0.074103631 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24248543 | 673 | BRAF | umls:C1527249 | BeFree | In conclusion, miR-145 might be used as a therapeutic target in the treatment of colorectal cancer patients with BRAF V600E mutation. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22210186 | 673 | BRAF | umls:C1527249 | BeFree | High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. | 0.274375073 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25280751 | 673 | BRAF | umls:C1527249 | BeFree | Tumour DNA was extracted (formalin fixed, paraffin embedded, FFPE tissue) and pyrosequencing used to test for MLH1 promoter methylation and presence of the BRAF c.1799T>A, p.(Val600Glu) mutation 71 CRCs from individuals with pathogenic MLH1 mutations and 73 CRCs with sporadic MLH1 loss. | 0.274375073 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23887157 | 673 | BRAF | umls:C0009402 | BeFree | We demonstrate that SSA-associated synchronous colorectal carcinomas have a striking predilection for elderly women, are associated with a favorable prognosis, and are MSI-H and BRAF V600E positive. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18428050 | 5609 | MAP2K7 | umls:C1527249 | BeFree | Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors. | 0.003800186 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21516079 | 3845 | KRAS | umls:C0009402 | BeFree | Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. | 0.082367032 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19190129 | 3845 | KRAS | umls:C1527249 | BeFree | Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. | 0.16 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23341544 | 673 | BRAF | umls:C0009402 | BeFree | 3'-Deoxy-3'-18F-fluorothymidine PET predicts response to (V600E)BRAF-targeted therapy in preclinical models of colorectal cancer. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24242331 | 673 | BRAF | umls:C1527249 | BeFree | miRNA array analysis revealed that microRNA-31 (miR-31)-5p was the most up-regulated miRNA in CRCs with mutated BRAF (V600E) compared with CRCs possessing wild-type BRAF (including cases with KRAS mutation). | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21587258 | 673 | BRAF | umls:C1527249 | BeFree | Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. | 0.274375073 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20162668 | 3845 | KRAS | umls:C1527249 | BeFree | Specific KRAS mutation is an informative prognostic factor in both sporadic and hereditary CRC and applied in an algorithm with BRAF(V600E) and MSI may identify sporadic CRC patients with poor clinical outcome. | 0.16 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19213871 | 673 | BRAF | umls:C1527249 | BeFree | BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer. | 0.274375073 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25744437 | 673 | BRAF | umls:C0009402 | BeFree | In this review, clinicopathologic characteristics associated with BRAF-mutant tumors will be highlighted, and the prognostic and predictive implications of a BRAF V600E mutation will be discussed with a focus on melanoma, thyroid carcinoma and colorectal carcinoma. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24166180 | 673 | BRAF | umls:C1527249 | BeFree | These results seem to indicate that Cdx2 may play a role in the serrated pathway to colorectal cancer as underlined by strong relationships with BRAF(V600E), CIMP-high and MMR-deficiency. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15342696 | 4292 | MLH1 | umls:C1527249 | BeFree | BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2. | 0.16 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20489114 | 673 | BRAF | umls:C1527249 | BeFree | The aim of this study is to compare the utility of methylation analysis of MLH1 and BRAF V600E mutations for the selection of patients with MLH1 negative colorectal cancer for genetic testing. | 0.274375073 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 207 | AKT1 | umls:C1527249 | BeFree | We show that activation of the PI3K/AKT pathway is a mechanism of both innate and acquired resistance to BRAF inhibitors in BRAF(V600E) CRC and suggest combinatorial approaches to improve outcomes in this poor prognosis subset of patients. | 0.011596056 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20197478 | 673 | BRAF | umls:C1527249 | BeFree | The aim of this study was to relate the CpG island methylator phenotype (CIMP; characterized by extensive promoter hypermethylation) to cancer-specific survival in colorectal cancer, taking into consideration relevant clinicopathologic factors, such as microsatellite instability (MSI) screening status and the BRAF V600E mutation. | 0.274375073 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 7157 | TP53 | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.084734064 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5294 | PIK3CG | umls:C0009402 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.011943442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24248543 | 406937 | MIR145 | umls:C0009402 | BeFree | In conclusion, miR-145 might be used as a therapeutic target in the treatment of colorectal cancer patients with BRAF V600E mutation. | 0.00434307 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23553055 | 673 | BRAF | umls:C0009402 | BeFree | BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23462926 | 673 | BRAF | umls:C0009402 | BeFree | Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21516079 | 673 | BRAF | umls:C1527249 | BeFree | Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. | 0.274375073 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20489114 | 673 | BRAF | umls:C0009402 | BeFree | The aim of this study is to compare the utility of methylation analysis of MLH1 and BRAF V600E mutations for the selection of patients with MLH1 negative colorectal cancer for genetic testing. | 0.074103631 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18628431 | 673 | BRAF | umls:C1527249 | BeFree | Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18428050 | 673 | BRAF | umls:C1527249 | BeFree | Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24722974 | 673 | BRAF | umls:C0009402 | BeFree | VE1 immunohistochemistry accurately detects BRAF V600E mutations in colorectal carcinoma and can be utilized in the detection of poorly differentiated colorectal serrated adenocarcinoma. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 324 | APC | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.075732282 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23657789 | 1956 | EGFR | umls:C0009402 | BeFree | A point mutation (V600E) in the BRAF oncogene is a prognostic biomarker and may predict for nonresponse to anti-EGFR antibody therapy in patients with colorectal carcinoma. | 0.08 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18591935 | 673 | BRAF | umls:C0009402 | BeFree | We show MCC expression is dramatically decreased in many CRC cell lines and the distinct subset of sporadic CRC characterized by the CpG island methylator phenotype and BRAF(V600E) mutation due to promoter methylation as reported previously. | 0.074103631 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 5290 | PIK3CA | umls:C1527249 | BeFree | We conducted comparative proteomic analysis of BRAF(V600E) melanoma and CRC cell lines, followed by correlation of phosphoinositide 3-kinase (PI3K) pathway activation and sensitivity to the vemurafenib analogue PLX4720. | 0.192269685 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20489114 | 4292 | MLH1 | umls:C1527249 | BeFree | The aim of this study is to compare the utility of methylation analysis of MLH1 and BRAF V600E mutations for the selection of patients with MLH1 negative colorectal cancer for genetic testing. | 0.16 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15342696 | 673 | BRAF | umls:C1527249 | BeFree | BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2. | 0.274375073 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15782118 | 673 | BRAF | umls:C1527249 | BeFree | The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6. | 0.274375073 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17065421 | 5894 | RAF1 | umls:C0009402 | BeFree | Mutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer. | 0.003800186 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20162668 | 3845 | KRAS | umls:C0009402 | BeFree | Specific KRAS mutation is an informative prognostic factor in both sporadic and hereditary CRC and applied in an algorithm with BRAF(V600E) and MSI may identify sporadic CRC patients with poor clinical outcome. | 0.082367032 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 5294 | PIK3CG | umls:C1527249 | BeFree | We conducted comparative proteomic analysis of BRAF(V600E) melanoma and CRC cell lines, followed by correlation of phosphoinositide 3-kinase (PI3K) pathway activation and sensitivity to the vemurafenib analogue PLX4720. | 0.011943442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25176643 | 673 | BRAF | umls:C1527249 | BeFree | High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17065421 | 22882 | ZHX2 | umls:C0009402 | BeFree | Mutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer. | 0.001900093 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18806830 | 673 | BRAF | umls:C1527249 | BeFree | Colorectal cancer cells with the BRAF(V600E) mutation are addicted to the ERK1/2 pathway for growth factor-independent survival and repression of BIM. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 3845 | KRAS | umls:C1527249 | 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. | 0.16 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23887306 | 673 | BRAF | umls:C0009402 | BeFree | This improved classification of serrated lesions including immunohistochemical evaluation of BRAF V600E mutation may be the key to identify lesions with higher potential to progression into sessile serrated adenoma/polyp, and further to BRAF V600E-mutated colorectal cancer. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21587258 | 673 | BRAF | umls:C0009402 | BeFree | Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. | 0.074103631 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17545526 | 673 | BRAF | umls:C1527249 | BeFree | The reference tumor group contained 28 HNPCC with proven germ-line mutations or positive Amsterdam I criteria (median age, 37 years) and loss of MLH1 expression, 14 sporadic MSI-H CRC tumors with loss of MLH1 expression and BRAF V600E mutation (median age, 80.5 years), and 16 sporadic MSS CRC (median age, 76.5 years). | 0.274375073 | 2007 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18556776 | 673 | BRAF | umls:C0009402 | BeFree | In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. | 0.074103631 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23792567 | 3845 | KRAS | umls:C0009402 | BeFree | Indeed, whereas the median overall survival (OS) of colorectal cancer (CRC) patients receiving standard-of-care therapy is approximately two years or more if their tumors express wild-type BRAF and wild-type KRAS, median OS is less than twelve months with tumors expressing V600E-mutant BRAF and wild-type KRAS. | 0.082367032 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23650027 | 673 | BRAF | umls:C0009402 | BeFree | BRAF V600E mutation detection by immunohistochemistry in colorectal carcinoma. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19289622 | 673 | BRAF | umls:C1527249 | BeFree | BRAF mutation (V600E) is found in MSI colorectal cancers. | 0.274375073 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25176643 | 673 | BRAF | umls:C0009402 | BeFree | High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25219500 | 4292 | MLH1 | umls:C1527249 | BeFree | Through an RNAi screen, here we identify the transcriptional repressor MAFG as the pivotal factor required for MLH1 silencing and CIMP in CRCs containing BRAF(V600E). | 0.16 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 5290 | PIK3CA | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.192269685 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 673 | BRAF | umls:C1527249 | BeFree | We show that activation of the PI3K/AKT pathway is a mechanism of both innate and acquired resistance to BRAF inhibitors in BRAF(V600E) CRC and suggest combinatorial approaches to improve outcomes in this poor prognosis subset of patients. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16015629 | 4292 | MLH1 | umls:C0009402 | BeFree | The current data showed instead that the BRAF V599E mutation was associated only with a subgroup of colorectal carcinomas with MSI that were obtained from older patients without hereditary nonpolyposis colorectal carcinoma and showed epigenetic silencing of hMLH1. | 0.082367032 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23792567 | 3845 | KRAS | umls:C1527249 | BeFree | Indeed, whereas the median overall survival (OS) of colorectal cancer (CRC) patients receiving standard-of-care therapy is approximately two years or more if their tumors express wild-type BRAF and wild-type KRAS, median OS is less than twelve months with tumors expressing V600E-mutant BRAF and wild-type KRAS. | 0.16 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 2064 | ERBB2 | umls:C1527249 | 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. | 0.015396242 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23880961 | 673 | BRAF | umls:C0009402 | BeFree | A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24248543 | 406937 | MIR145 | umls:C1527249 | BeFree | In conclusion, miR-145 might be used as a therapeutic target in the treatment of colorectal cancer patients with BRAF V600E mutation. | 0.004071628 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23887306 | 673 | BRAF | umls:C1527249 | BeFree | This improved classification of serrated lesions including immunohistochemical evaluation of BRAF V600E mutation may be the key to identify lesions with higher potential to progression into sessile serrated adenoma/polyp, and further to BRAF V600E-mutated colorectal cancer. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23553055 | 673 | BRAF | umls:C1527249 | BeFree | BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 25 | ABL1 | umls:C0009402 | 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. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 25 | ABL1 | umls:C1527249 | 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. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25708741 | 673 | BRAF | umls:C1527249 | BeFree | The patient with SSL as index lesions who developed CRC harbored V600E BRAF mutation in both index lesion and the carcinoma. | 0.274375073 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20635392 | 673 | BRAF | umls:C0009402 | BeFree | Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. | 0.074103631 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21516079 | 3845 | KRAS | umls:C1527249 | BeFree | Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. | 0.16 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21587258 | 7474 | WNT5A | umls:C0009402 | BeFree | Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. | 0.002171535 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 5293 | PIK3CD | umls:C0009402 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.012486326 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18591935 | 673 | BRAF | umls:C1527249 | BeFree | We show MCC expression is dramatically decreased in many CRC cell lines and the distinct subset of sporadic CRC characterized by the CpG island methylator phenotype and BRAF(V600E) mutation due to promoter methylation as reported previously. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23406774 | 673 | BRAF | umls:C0009402 | BeFree | The V600E mutation of BRAF was initially described in 2002 and has been found at particularly high frequency in melanoma and certain subtypes of colorectal cancer. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25613750 | 673 | BRAF | umls:C0009402 | BeFree | We hypothesized it would be more commonly methylated and inactivated in serrated pathway colorectal cancers that are hallmarked by a BRAF V600E mutation and a methylator phenotype, compared to traditional pathway cancers that are BRAF wild type. | 0.074103631 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23657789 | 673 | BRAF | umls:C0009402 | BeFree | A point mutation (V600E) in the BRAF oncogene is a prognostic biomarker and may predict for nonresponse to anti-EGFR antibody therapy in patients with colorectal carcinoma. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19213871 | 673 | BRAF | umls:C0009402 | BeFree | BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer. | 0.074103631 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17119056 | 673 | BRAF | umls:C1527249 | BeFree | Somatic BRAF-V600E mutations in familial colorectal cancer. | 0.274375073 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23341544 | 673 | BRAF | umls:C1527249 | BeFree | 3'-Deoxy-3'-18F-fluorothymidine PET predicts response to (V600E)BRAF-targeted therapy in preclinical models of colorectal cancer. | 0.274375073 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17065421 | 673 | BRAF | umls:C0009402 | BeFree | Detection of BRAF V600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology. | 0.074103631 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18556776 | 673 | BRAF | umls:C1527249 | BeFree | In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. | 0.274375073 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23549875 | 673 | BRAF | umls:C0009402 | BeFree | Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. | 0.074103631 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 1956 | EGFR | umls:C1527249 | 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. | 0.108132349 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21457162 | 4292 | MLH1 | umls:C0009402 | BeFree | KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-serrated colorectal carcinomas (CRCs) and nine adenomas. | 0.082367032 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18098337 | 673 | BRAF | umls:C0009402 | BeFree | BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations. | 0.074103631 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25318602 | 673 | BRAF | umls:C0009402 | BeFree | Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24921639 | 673 | BRAF | umls:C0009402 | BeFree | BRAF V600E immunohistochemistry is reliable in primary and metastatic colorectal carcinoma regardless of treatment status and shows high intratumoral homogeneity. | 0.074103631 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23880961 | 673 | BRAF | umls:C1527249 | BeFree | A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. | 0.274375073 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 5426 | POLE | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.001900093 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 5624 | PROC | umls:C0009402 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.051302514 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26216840 | 5426 | POLE | umls:C1527249 | BeFree | Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. | 0.002171535 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20635392 | 673 | BRAF | umls:C1527249 | BeFree | Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. | 0.274375073 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18806830 | 673 | BRAF | umls:C0009402 | BeFree | Colorectal cancer cells with the BRAF(V600E) mutation are addicted to the ERK1/2 pathway for growth factor-independent survival and repression of BIM. | 0.074103631 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1136410 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 24203816 | 25976 | TIPARP | umls:C0009402 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.000542884 | 2013 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 24203816 | 4255 | MGMT | umls:C0009402 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.014386419 | 2013 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 24203816 | 4255 | MGMT | umls:C1527249 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.033322675 | 2013 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 24203816 | 25976 | TIPARP | umls:C1527249 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.000542884 | 2013 | PARP1 | 1 | 226367601 | A | G |
| rs1143623 | 24446182 | 6647 | SOD1 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001357209 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3586 | IL10 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005971721 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 6647 | SOD1 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001628651 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 7099 | TLR4 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.00434307 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3553 | IL1B | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.017459494 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3553 | IL1B | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003257302 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3605 | IL17A | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005428837 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3605 | IL17A | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005700279 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 7099 | TLR4 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.008262808 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3586 | IL10 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.012801375 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143627 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | IL1B | 2 | 112836810 | G | A |
| rs1143627 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | IL1B | 2 | 112836810 | G | A |
| rs1143634 | 23192617 | 3552 | IL1A | umls:C0009402 | BeFree | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T>C (rs419598) cytokine polymorphisms are correlated with colorectal cancer. | 0.001085767 | 2013 | IL1B | 2 | 112832813 | G | A |
| rs1143634 | 24557062 | 3586 | IL10 | umls:C0009402 | BeFree | We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10) gene were associated with increased risk for CRC in the Han Chinese. | 0.005971721 | 2015 | IL1B | 2 | 112832813 | G | A |
| rs1143634 | 24557062 | 3586 | IL10 | umls:C1527249 | BeFree | We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10) gene were associated with increased risk for CRC in the Han Chinese. | 0.012801375 | 2015 | IL1B | 2 | 112832813 | G | A |
| rs1143634 | 23192617 | 3552 | IL1A | umls:C1527249 | BeFree | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T>C (rs419598) cytokine polymorphisms are correlated with colorectal cancer. | 0.005819831 | 2013 | IL1B | 2 | 112832813 | G | A |
| rs11536891 | 19760027 | 7099 | TLR4 | umls:C1527249 | BeFree | Two CRP haplotypes (global p = 0.04) and TLR4 tagSNPs (rs7873784, rs11536891), but not TLR4 haplotypes, were associated with colorectal cancer. | 0.008262808 | 2009 | TLR4 | 9 | 117717059 | T | C |
| rs11536891 | 19760027 | 7099 | TLR4 | umls:C0009402 | BeFree | Two CRP haplotypes (global p = 0.04) and TLR4 tagSNPs (rs7873784, rs11536891), but not TLR4 haplotypes, were associated with colorectal cancer. | 0.00434307 | 2009 | TLR4 | 9 | 117717059 | T | C |
| rs11540654 | 20615891 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 Arg72Pro polymorphism and colorectal cancer risk: a systematic review and meta-analysis. | 0.084734064 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20449797 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. | 0.084734064 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21971103 | 7157 | TP53 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.084734064 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 16353134 | 7157 | TP53 | umls:C1527249 | BeFree | Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53. | 0.16 | 2006 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20449797 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. | 0.16 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23183747 | 7157 | TP53 | umls:C1527249 | BeFree | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. | 0.16 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21051533 | 4193 | MDM2 | umls:C1527249 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.017263997 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21124037 | 7157 | TP53 | umls:C1527249 | BeFree | Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis. | 0.16 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17374954 | 7157 | TP53 | umls:C0009402 | BeFree | Few reports have investigated the association of two p53 polymorphisms (Arg72Pro and PIN3-A2) with colorectal cancer (CRC) risk, and no previous study has analyzed their role as susceptibility alleles for colorectal adenoma. | 0.084734064 | 2006 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23183747 | 7157 | TP53 | umls:C0009402 | BeFree | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. | 0.084734064 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22393962 | 7157 | TP53 | umls:C1527249 | BeFree | Association of Arg72Pro of P53 polymorphism with colorectal cancer susceptibility risk in Malaysian population. | 0.16 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20615891 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 Arg72Pro polymorphism and colorectal cancer risk: a systematic review and meta-analysis. | 0.16 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22393962 | 7157 | TP53 | umls:C0009402 | BeFree | Association of Arg72Pro of P53 polymorphism with colorectal cancer susceptibility risk in Malaysian population. | 0.084734064 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21051533 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.16 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21124037 | 7157 | TP53 | umls:C0009402 | BeFree | Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis. | 0.084734064 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21971103 | 7157 | TP53 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.16 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 18988302 | 7157 | TP53 | umls:C0009402 | BeFree | The p53 R72P genotype was identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 78 consecutive colorectal cancer patients with liver metastases and 214 age- and sex-matched cases with nonmetastatic colorectal cancer. | 0.084734064 | 2008 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17224235 | 6041 | RNASEL | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.003181358 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21971103 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.062389495 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21051533 | 4193 | MDM2 | umls:C0009402 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.005700279 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17224235 | 7157 | TP53 | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.16 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17374954 | 7157 | TP53 | umls:C1527249 | BeFree | Few reports have investigated the association of two p53 polymorphisms (Arg72Pro and PIN3-A2) with colorectal cancer (CRC) risk, and no previous study has analyzed their role as susceptibility alleles for colorectal adenoma. | 0.16 | 2006 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17224235 | 6041 | RNASEL | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.000814326 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 16353134 | 7157 | TP53 | umls:C0009402 | BeFree | Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53. | 0.084734064 | 2006 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21971103 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.012681823 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21051533 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 R72P and MDM2 SNP309 polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study. | 0.084734064 | 2011 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 17224235 | 7157 | TP53 | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.084734064 | 2007 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11568820 | 24075799 | 1045 | CDX2 | umls:C1527249 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.013496149 | 2013 | NA | 12 | 47908762 | C | T |
| rs11568820 | 24075799 | 1045 | CDX2 | umls:C0009402 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.012214884 | 2013 | NA | 12 | 47908762 | C | T |
| rs116093741 | 10896919 | 999 | CDH1 | umls:C0009402 | BeFree | The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. | 0.007600372 | 2000 | CDH1 | 16 | 68812144 | A | G,T |
| rs116093741 | 10896919 | 999 | CDH1 | umls:C1527249 | BeFree | The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. | 0.171292716 | 2000 | CDH1 | 16 | 68812144 | A | G,T |
| rs11614913 | 24399071 | 406938 | MIR146A | umls:C0009402 | BeFree | Effects of common polymorphisms rs2910164 in miR-146a and rs11614913 in miR-196a2 on susceptibility to colorectal cancer: a systematic review meta-analysis. | 0.003528744 | 2013 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 24399071 | 406938 | MIR146A | umls:C1527249 | BeFree | Effects of common polymorphisms rs2910164 in miR-146a and rs11614913 in miR-196a2 on susceptibility to colorectal cancer: a systematic review meta-analysis. | 0.003800186 | 2013 | MIR196A2 | 12 | 53991815 | C | T |
| rs11615 | 21278243 | 7376 | NR1H2 | umls:C1527249 | BeFree | To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) and responses to oxaliplatin-based chemotherapies, we carried out a meta-analysis of gastric and colorectal cancer for commonly studied polymorphisms ERCC1 rs11615C>T and ERCC2 rs13181T>G. | 0.001357209 | 2011 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24861646 | 2072 | ERCC4 | umls:C1527249 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.00554839 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 24861646 | 2072 | ERCC4 | umls:C0009402 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.000814326 | 2014 | ERCC1 | 19 | 45420395 | A | G |
| rs11615 | 21278243 | 7376 | NR1H2 | umls:C0009402 | BeFree | To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) and responses to oxaliplatin-based chemotherapies, we carried out a meta-analysis of gastric and colorectal cancer for commonly studied polymorphisms ERCC1 rs11615C>T and ERCC2 rs13181T>G. | 0.001357209 | 2011 | ERCC1 | 19 | 45420395 | A | G |
| rs11632715 | 21655089 | 26585 | GREM1 | umls:C1527249 | BeFree | Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). | 0.125624334 | 2011 | NA | 15 | 32712046 | G | A |
| rs11632715 | 21655089 | 26585 | GREM1 | umls:C0009402 | BeFree | Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). | 0.003257302 | 2011 | NA | 15 | 32712046 | G | A |
| rs11676348 | 26071399 | 3579 | CXCR2 | umls:C0009402 | BeFree | The minor allele (T) in SNP rs11676348, located downstream from CXCR2 that has been implicated in CRC progression, is associated with a lower risk of CRC, particularly tumors with a mucinous component, Crohn's-like reaction and MSI-high. | 0.000814326 | 2015 | NA | 2 | 218145423 | C | T |
| rs11676348 | 26071399 | 3579 | CXCR2 | umls:C1527249 | BeFree | The minor allele (T) in SNP rs11676348, located downstream from CXCR2 that has been implicated in CRC progression, is associated with a lower risk of CRC, particularly tumors with a mucinous component, Crohn's-like reaction and MSI-high. | 0.000814326 | 2015 | NA | 2 | 218145423 | C | T |
| rs11874392 | 23275154 | 4092 | SMAD7 | umls:C0009402 | BeFree | SMAD7 rs11874392 presented consistently significant associations with a risk of CRC at both stages, with odds ratio = 1.41 (95% confidence interval = 1.21-1.63) using additive modes in combined analyses. | 0.009229024 | 2013 | SMAD7 | 18 | 48926786 | A | T |
| rs11874392 | 23275154 | 4092 | SMAD7 | umls:C1527249 | BeFree | SMAD7 rs11874392 presented consistently significant associations with a risk of CRC at both stages, with odds ratio = 1.41 (95% confidence interval = 1.21-1.63) using additive modes in combined analyses. | 0.162367471 | 2013 | SMAD7 | 18 | 48926786 | A | T |
| rs12037879 | 23593308 | 54741 | LEPROT | umls:C1527249 | BeFree | LEPR rs12037879 only presented modestly increased colorectal cancer risk, with odds ratios of 1.41 (95% confidence interval [CI] 1.13-1.76) and 1.74 (95%CI 1.08-2.81) for GA and AA genotype when compared with GG genotype in combined population. | 0.000271442 | 2013 | LEPR | 1 | 65477024 | G | A |
| rs12037879 | 23593308 | 54741 | LEPROT | umls:C0009402 | BeFree | LEPR rs12037879 only presented modestly increased colorectal cancer risk, with odds ratios of 1.41 (95% confidence interval [CI] 1.13-1.76) and 1.74 (95%CI 1.08-2.81) for GA and AA genotype when compared with GG genotype in combined population. | 0.000271442 | 2013 | LEPR | 1 | 65477024 | G | A |
| rs121434592 | 18813315 | 207 | AKT1 | umls:C1527249 | BeFree | Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. | 0.011596056 | 2008 | AKT1 | 14 | 104780214 | C | T |
| rs121913254 | 23400451 | 4893 | NRAS | umls:C1527249 | BeFree | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | 0.009077134 | 2013 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 23400451 | 4893 | NRAS | umls:C0009402 | BeFree | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | 0.006786047 | 2013 | NRAS | 1 | 114713909 | G | T,C |
| rs121913529 | 25359494 | 3845 | KRAS | umls:C1527249 | BeFree | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with valine mutation at codon 12) and KRas G13D (Kirsten rat sarcoma viral oncogene homolog with aspartic mutation at codon 13) oncogenes in an orthotopic colorectal cancer (CRC) model. | 0.16 | 2015 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 25359494 | 3845 | KRAS | umls:C0009402 | BeFree | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with valine mutation at codon 12) and KRas G13D (Kirsten rat sarcoma viral oncogene homolog with aspartic mutation at codon 13) oncogenes in an orthotopic colorectal cancer (CRC) model. | 0.082367032 | 2015 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23209813 | 60343 | FAM3A | umls:C0009402 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.009500466 | 2012 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23209813 | 60343 | FAM3A | umls:C1527249 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.007057489 | 2012 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 10398103 | 3845 | KRAS | umls:C0009402 | BeFree | Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras protein with higher stage and increased lethality of colorectal carcinomas, while the codon 12 aspartate-for-glycine (G12D) Ras mutation shows no such association. | 0.082367032 | 1999 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23209813 | 197257 | LDHD | umls:C1527249 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.007057489 | 2012 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23209813 | 1738 | DLD | umls:C0009402 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.009500466 | 2012 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23209813 | 1738 | DLD | umls:C1527249 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.007057489 | 2012 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23209813 | 197257 | LDHD | umls:C0009402 | BeFree | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RNAs (siRNA) and overexpressed in KRAS-wild-type CRC cells (COLO320DM) by KRAS-mutant vectors to generate paired CRC cells. | 0.009500466 | 2012 | KRAS | 12 | 25245350 | C | T,G,A |
| rs12241008 | 25105248 | 143187 | VTI1A | umls:C1527249 | GWASCAT | Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A. | 0.120542884 | 2014 | VTI1A | 10 | 112520943 | T | C |
| rs1229984 | 16332725 | 10327 | AKR1A1 | umls:C0009402 | BeFree | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) His47Arg, which have a strong impact on alcohol metabolism, are common in Japanese population but their significance for CRC carcinogenesis remains to be clarified in detail. | 0.002171535 | 2006 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 16332725 | 125 | ADH1B | umls:C1527249 | BeFree | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. | 0.015830843 | 2006 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 24552298 | 125 | ADH1B | umls:C0009402 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.001900093 | 2015 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 16332725 | 10327 | AKR1A1 | umls:C1527249 | BeFree | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) His47Arg, which have a strong impact on alcohol metabolism, are common in Japanese population but their significance for CRC carcinogenesis remains to be clarified in detail. | 0.002171535 | 2006 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 24552298 | 5468 | PPARG | umls:C1527249 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.038990617 | 2015 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 24552298 | 125 | ADH1B | umls:C1527249 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.015830843 | 2015 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 16332725 | 217 | ALDH2 | umls:C1527249 | BeFree | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. | 0.024832032 | 2006 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 16332725 | 125 | ADH1B | umls:C0009402 | BeFree | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. | 0.001900093 | 2006 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 16332725 | 217 | ALDH2 | umls:C0009402 | BeFree | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. | 0.003528744 | 2006 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 24552298 | 5468 | PPARG | umls:C0009402 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.011129117 | 2015 | ADH1B | 4 | 99318162 | T | C |
| rs12373 | 25079514 | 8460 | TPST1 | umls:C1527249 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000271442 | 2014 | ZG16B | 16 | 2832196 | G | T |
| rs12373 | 25079514 | 124220 | ZG16B | umls:C0009402 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000542884 | 2014 | ZG16B | 16 | 2832196 | G | T |
| rs12373 | 25079514 | 124220 | ZG16B | umls:C1527249 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000542884 | 2014 | ZG16B | 16 | 2832196 | G | T |
| rs12373 | 25079514 | 8460 | TPST1 | umls:C0009402 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000271442 | 2014 | ZG16B | 16 | 2832196 | G | T |
| rs12412391 | 24836286 | 101927324 | LINC01475 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | LINC01475 | 10 | 99529178 | A | G |
| rs12603526 | 24836286 | 64359 | NXN | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | NXN | 17 | 897353 | T | C |
| rs12654264 | 20403997 | 1917 | EEF1A2 | umls:C0009402 | BeFree | Compared with nonusers, the unadjusted odds ratio of CRC among statin users with the A/A genotype of rs12654264 in HMGCR was 0.3 (95% confidence interval, 0.18-0.51) and among statin users with the T/T genotype was 0.66 (95% confidence interval, 0.41-1.06; P-interaction = 0.0012). | 0.001357209 | 2010 | HMGCR | 5 | 75352778 | A | T |
| rs12654264 | 20403997 | 1917 | EEF1A2 | umls:C1527249 | BeFree | Compared with nonusers, the unadjusted odds ratio of CRC among statin users with the A/A genotype of rs12654264 in HMGCR was 0.3 (95% confidence interval, 0.18-0.51) and among statin users with the T/T genotype was 0.66 (95% confidence interval, 0.41-1.06; P-interaction = 0.0012). | 0.001357209 | 2010 | HMGCR | 5 | 75352778 | A | T |
| rs12733285 | 21749709 | 51094 | ADIPOR1 | umls:C0009402 | BeFree | We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. | 0.002442977 | 2011 | ADIPOR1 | 1 | 202952912 | C | T |
| rs12733285 | 21749709 | 51094 | ADIPOR1 | umls:C1527249 | BeFree | We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. | 0.004810009 | 2011 | ADIPOR1 | 1 | 202952912 | C | T |
| rs12794714 | 24562971 | 120227 | CYP2R1 | umls:C1527249 | BeFree | A nominally significant association was detected between CRC and the SNP rs12794714 in the vitamin D 25-hydroxylase gene CYP2R1 (p = 0.019), a SNP that has previously been associated with serum vitamin D levels. | 0.000271442 | 2014 | CYP2R1 | 11 | 14892029 | G | A |
| rs12794714 | 24562971 | 120227 | CYP2R1 | umls:C0009402 | BeFree | A nominally significant association was detected between CRC and the SNP rs12794714 in the vitamin D 25-hydroxylase gene CYP2R1 (p = 0.019), a SNP that has previously been associated with serum vitamin D levels. | 0.000271442 | 2014 | CYP2R1 | 11 | 14892029 | G | A |
| rs12904 | 24175772 | 1942 | EFNA1 | umls:C1527249 | BeFree | rs12904 polymorphism in the 3'UTR of EFNA1 is associated with colorectal cancer susceptibility in a Chinese population. | 0.000542884 | 2014 | EFNA1;SLC50A1 | 1 | 155134221 | G | A |
| rs12904 | 24175772 | 1942 | EFNA1 | umls:C0009402 | BeFree | rs12904 polymorphism in the 3'UTR of EFNA1 is associated with colorectal cancer susceptibility in a Chinese population. | 0.000542884 | 2014 | EFNA1;SLC50A1 | 1 | 155134221 | G | A |
| rs12917 | 24203816 | 25976 | TIPARP | umls:C1527249 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.000542884 | 2013 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 142 | PARP1 | umls:C1527249 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.01062984 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 24203816 | 25976 | TIPARP | umls:C0009402 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.000542884 | 2013 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 16633920 | 4255 | MGMT | umls:C0009402 | BeFree | O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States). | 0.014386419 | 2006 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 4255 | MGMT | umls:C1527249 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.033322675 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 16633920 | 2099 | ESR1 | umls:C1527249 | BeFree | Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. | 0.012182547 | 2006 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 16633920 | 2099 | ESR1 | umls:C0009402 | BeFree | Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. | 0.003800186 | 2006 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 16633920 | 4255 | MGMT | umls:C1527249 | BeFree | O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States). | 0.033322675 | 2006 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 24203816 | 4255 | MGMT | umls:C1527249 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.033322675 | 2013 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 142 | PARP1 | umls:C0009402 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.003257302 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 18006925 | 4255 | MGMT | umls:C0009402 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.014386419 | 2007 | MGMT | 10 | 129708019 | C | T |
| rs12917 | 24203816 | 4255 | MGMT | umls:C0009402 | BeFree | In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. | 0.014386419 | 2013 | MGMT | 10 | 129708019 | C | T |
| rs12953717 | 21221812 | 4092 | SMAD7 | umls:C1527249 | BeFree | Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. | 0.162367471 | 2011 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 23949881 | 4092 | SMAD7 | umls:C1527249 | BeFree | SMAD7 rs12953717 polymorphism contributes to increased risk of colorectal cancer. | 0.162367471 | 2013 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 21221812 | 4092 | SMAD7 | umls:C0009402 | BeFree | Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. | 0.009229024 | 2011 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 18231913 | 4092 | SMAD7 | umls:C1527249 | BeFree | Recently we have demonstrated variation in SMAD7, defined by the single nucleotide polymorphism rs12953717, to be strongly associated with risk of colorectal cancer. | 0.162367471 | 2008 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 19357349 | 4092 | SMAD7 | umls:C1527249 | BeFree | Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. | 0.162367471 | 2009 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 23949881 | 4092 | SMAD7 | umls:C0009402 | BeFree | SMAD7 rs12953717 polymorphism contributes to increased risk of colorectal cancer. | 0.009229024 | 2013 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 18231913 | 4092 | SMAD7 | umls:C0009402 | BeFree | Recently we have demonstrated variation in SMAD7, defined by the single nucleotide polymorphism rs12953717, to be strongly associated with risk of colorectal cancer. | 0.009229024 | 2008 | SMAD7 | 18 | 48927559 | C | T |
| rs12953717 | 19357349 | 4092 | SMAD7 | umls:C0009402 | BeFree | Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. | 0.009229024 | 2009 | SMAD7 | 18 | 48927559 | C | T |
| rs12997 | 24375256 | 90 | ACVR1 | umls:C0009402 | BeFree | We observed that compared with A carriers (AA + AG), the GG genotype of rs12997:ACVR1 is associated with a significantly higher risk of CRC (OR = 1.52, 95% confidence interval (95% CI) = 1.04-2.21, P = 0.031), particularly in nonsmokers with a higher OR of 1.63 (95% CI = 1.04-2.55, P = 0.032). | 0.000271442 | 2013 | ACVR1 | 2 | 157736845 | A | G |
| rs12997 | 24375256 | 90 | ACVR1 | umls:C1527249 | BeFree | We observed that compared with A carriers (AA + AG), the GG genotype of rs12997:ACVR1 is associated with a significantly higher risk of CRC (OR = 1.52, 95% confidence interval (95% CI) = 1.04-2.21, P = 0.031), particularly in nonsmokers with a higher OR of 1.63 (95% CI = 1.04-2.55, P = 0.032). | 0.000271442 | 2013 | ACVR1 | 2 | 157736845 | A | G |
| rs13098279 | 23240038 | 4292 | MLH1 | umls:C0009402 | BeFree | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 0.082367032 | 2012 | LOC105377132 | 3 | 37190967 | G | A |
| rs13098279 | 23240038 | 4292 | MLH1 | umls:C1527249 | BeFree | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 0.16 | 2012 | LOC105377132 | 3 | 37190967 | G | A |
| rs13181 | 20649433 | 2068 | ERCC2 | umls:C0009402 | BeFree | Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms in a Turkish population with colorectal carcinoma. | 0.010434343 | 2010 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 17363013 | 2068 | ERCC2 | umls:C1527249 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.057503541 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23317245 | 2068 | ERCC2 | umls:C0009402 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.010434343 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21278243 | 7376 | NR1H2 | umls:C0009402 | BeFree | To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) and responses to oxaliplatin-based chemotherapies, we carried out a meta-analysis of gastric and colorectal cancer for commonly studied polymorphisms ERCC1 rs11615C>T and ERCC2 rs13181T>G. | 0.001357209 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21559836 | 2068 | ERCC2 | umls:C1527249 | BeFree | We found that: (i) XPC C/A (i11) heterozygous variant is associated with increased risk of CRC [OR is 2.07 (95% CI 1.1391, 3.7782) P=0.038], (ii) XPD A18911C (Lys751Gln) is associated with decreased risk of CRC [OR=0.4497, (95% CI 0.2215, 0.9131) P=0.031] for an individual with at least one A allele at this locus. | 0.057503541 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23317245 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.062389495 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 17363013 | 7508 | XPC | umls:C1527249 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.007448483 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 17363013 | 7508 | XPC | umls:C0009402 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.003257302 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24157118 | 2068 | ERCC2 | umls:C1527249 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.057503541 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 15914278 | 2068 | ERCC2 | umls:C0009402 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.010434343 | 2005 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23317245 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.012681823 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18085999 | 2068 | ERCC2 | umls:C0009402 | BeFree | Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. | 0.010434343 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23317245 | 2068 | ERCC2 | umls:C1527249 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.057503541 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21278243 | 7376 | NR1H2 | umls:C1527249 | BeFree | To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) and responses to oxaliplatin-based chemotherapies, we carried out a meta-analysis of gastric and colorectal cancer for commonly studied polymorphisms ERCC1 rs11615C>T and ERCC2 rs13181T>G. | 0.001357209 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 20649433 | 7508 | XPC | umls:C0009402 | BeFree | The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms and the susceptibility to colorectal carcinoma with or without oxidative stress were evaluated. | 0.003257302 | 2010 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 17363013 | 7507 | XPA | umls:C0009402 | BeFree | We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn, and interactions between the polymorphisms and the environmental factors: smoking intensity, intake of alcohol, red meat, processed meat, fish and poultry, fruits and vegetables and dietary fibres, in relation to development of colorectal cancer in a study population of 405 colorectal cancer cases and a comparison group of 810 persons, nested within the Danish prospective cohort, Diet, Cancer and Health, of 57053 cohort members. | 0.000814326 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24157118 | 2068 | ERCC2 | umls:C0009402 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.010434343 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24157118 | 7515 | XRCC1 | umls:C1527249 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.062389495 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 17363013 | 7507 | XPA | umls:C1527249 | BeFree | We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn, and interactions between the polymorphisms and the environmental factors: smoking intensity, intake of alcohol, red meat, processed meat, fish and poultry, fruits and vegetables and dietary fibres, in relation to development of colorectal cancer in a study population of 405 colorectal cancer cases and a comparison group of 810 persons, nested within the Danish prospective cohort, Diet, Cancer and Health, of 57053 cohort members. | 0.007915422 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24157118 | 7515 | XRCC1 | umls:C0009402 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.012681823 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21559836 | 2068 | ERCC2 | umls:C0009402 | BeFree | We found that: (i) XPC C/A (i11) heterozygous variant is associated with increased risk of CRC [OR is 2.07 (95% CI 1.1391, 3.7782) P=0.038], (ii) XPD A18911C (Lys751Gln) is associated with decreased risk of CRC [OR=0.4497, (95% CI 0.2215, 0.9131) P=0.031] for an individual with at least one A allele at this locus. | 0.010434343 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18085999 | 2068 | ERCC2 | umls:C1527249 | BeFree | Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. | 0.057503541 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 17363013 | 2068 | ERCC2 | umls:C0009402 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.010434343 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 15914278 | 2068 | ERCC2 | umls:C1527249 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.057503541 | 2005 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1329149 | 19706845 | 1571 | CYP2E1 | umls:C0009402 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.004071628 | 2009 | CYP2E1 | 10 | 133536297 | T | C |
| rs1329149 | 19706845 | 1571 | CYP2E1 | umls:C1527249 | GAD | [A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population.] | 0.042487023 | 2009 | CYP2E1 | 10 | 133536297 | T | C |
| rs1329149 | 19706845 | 1571 | CYP2E1 | umls:C1527249 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.042487023 | 2009 | CYP2E1 | 10 | 133536297 | T | C |
| rs1329149 | 19706845 | 217 | ALDH2 | umls:C0009402 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.003528744 | 2009 | CYP2E1 | 10 | 133536297 | T | C |
| rs1329149 | 19706845 | 217 | ALDH2 | umls:C1527249 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.024832032 | 2009 | CYP2E1 | 10 | 133536297 | T | C |
| rs13343954 | 24737748 | 85415 | RHPN2 | umls:C1527249 | GWASCAT | Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. | 0.138936256 | 2015 | RHPN2 | 19 | 33036982 | T | C |
| rs1342387 | 21749709 | 51094 | ADIPOR1 | umls:C0009402 | BeFree | We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. | 0.002442977 | 2011 | ADIPOR1 | 1 | 202945228 | T | C |
| rs1342387 | 25292021 | 51094 | ADIPOR1 | umls:C0009402 | BeFree | In summary, the ADIPOR1 rs1342387 polymorphism is significantly associated with risk of colorectal cancer among individuals of Asian ancestry. | 0.002442977 | 2015 | ADIPOR1 | 1 | 202945228 | T | C |
| rs1342387 | 21749709 | 51094 | ADIPOR1 | umls:C1527249 | BeFree | We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. | 0.004810009 | 2011 | ADIPOR1 | 1 | 202945228 | T | C |
| rs1342387 | 25292021 | 51094 | ADIPOR1 | umls:C1527249 | BeFree | In summary, the ADIPOR1 rs1342387 polymorphism is significantly associated with risk of colorectal cancer among individuals of Asian ancestry. | 0.004810009 | 2015 | ADIPOR1 | 1 | 202945228 | T | C |
| rs1346044 | 25355595 | 7486 | WRN | umls:C1527249 | BeFree | However, no correlation was found between WRN Cys1367Arg polymorphism and prognosis in CRC patients. | 0.003452799 | 2014 | WRN;LOC105379359 | 8 | 31167138 | T | C |
| rs1346044 | 25355595 | 7486 | WRN | umls:C0009402 | BeFree | However, no correlation was found between WRN Cys1367Arg polymorphism and prognosis in CRC patients. | 0.001085767 | 2014 | WRN;LOC105379359 | 8 | 31167138 | T | C |
| rs138213197 | 23541221 | 10481 | HOXB13 | umls:C1527249 | BeFree | Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer. | 0.000814326 | 2013 | HOXB13 | 17 | 48728343 | C | T |
| rs138213197 | 23541221 | 10481 | HOXB13 | umls:C0009402 | BeFree | Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer. | 0.000814326 | 2013 | HOXB13 | 17 | 48728343 | C | T |
| rs138213197 | 23292082 | 10481 | HOXB13 | umls:C1527249 | BeFree | HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk. | 0.000814326 | 2013 | HOXB13 | 17 | 48728343 | C | T |
| rs138213197 | 23292082 | 10481 | HOXB13 | umls:C0009402 | BeFree | HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk. | 0.000814326 | 2013 | HOXB13 | 17 | 48728343 | C | T |
| rs140856217 | 17000706 | 472 | ATM | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.002442977 | 2006 | ATM | 11 | 108293410 | T | C |
| rs140856217 | 17000706 | 4524 | MTHFR | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.106872745 | 2006 | ATM | 11 | 108293410 | T | C |
| rs140856217 | 17000706 | 4524 | MTHFR | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.026329862 | 2006 | ATM | 11 | 108293410 | T | C |
| rs140856217 | 17000706 | 472 | ATM | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.003995683 | 2006 | ATM | 11 | 108293410 | T | C |
| rs142616668 | 25339033 | 2067 | ERCC1 | umls:C1527249 | BeFree | The ERCC1 C118T polymorphism predicts clinical outcomes of colorectal cancer patients receiving oxaliplatin-based chemotherapy: a meta-analysis based on 22 studies. | 0.048306855 | 2015 | ERCC1;PPP1R13L;CD3EAP | 19 | 45407183 | C | T |
| rs142616668 | 25339033 | 2067 | ERCC1 | umls:C0009402 | BeFree | The ERCC1 C118T polymorphism predicts clinical outcomes of colorectal cancer patients receiving oxaliplatin-based chemotherapy: a meta-analysis based on 22 studies. | 0.008610195 | 2015 | ERCC1;PPP1R13L;CD3EAP | 19 | 45407183 | C | T |
| rs1456315 | 25315430 | 5462 | POU5F1B | umls:C0009402 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000271442 | 2015 | PRNCR1 | 8 | 127091692 | T | C |
| rs1456315 | 25315430 | 101867536 | PRNCR1 | umls:C1527249 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000542884 | 2015 | PRNCR1 | 8 | 127091692 | T | C |
| rs1456315 | 25315430 | 5462 | POU5F1B | umls:C1527249 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000271442 | 2015 | PRNCR1 | 8 | 127091692 | T | C |
| rs1456315 | 25315430 | 101867536 | PRNCR1 | umls:C0009402 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000542884 | 2015 | PRNCR1 | 8 | 127091692 | T | C |
| rs1476413 | 23893618 | 4524 | MTHFR | umls:C1527249 | BeFree | Using a nondominant model, the AA genotype for MTHFR rs1476413 exhibited a marginally significant (OR = 1.56; 95% CI = 1.00-2.44) association with CRC. | 0.106872745 | 2013 | MTHFR | 1 | 11792243 | C | T |
| rs1476413 | 23893618 | 4524 | MTHFR | umls:C0009402 | BeFree | Using a nondominant model, the AA genotype for MTHFR rs1476413 exhibited a marginally significant (OR = 1.56; 95% CI = 1.00-2.44) association with CRC. | 0.026329862 | 2013 | MTHFR | 1 | 11792243 | C | T |
| rs148704956 | 25680555 | 149233 | IL23R | umls:C1527249 | BeFree | The haplotypes of IL-17A G197A/IL-17F T7488C and IL-23R were not significantly associated with CRC. | 0.001628651 | 2015 | IL17A | 6 | 52187772 | A | G |
| rs148704956 | 25680555 | 149233 | IL23R | umls:C0009402 | BeFree | The haplotypes of IL-17A G197A/IL-17F T7488C and IL-23R were not significantly associated with CRC. | 0.001628651 | 2015 | IL17A | 6 | 52187772 | A | G |
| rs149726976 | 24038392 | 79695 | GALNT12 | umls:C1527249 | BeFree | In case of R297W-GALNT12, prediction of highly deleterious effect and disruption in ionic interactions were anticipated with reduction in enzymatic activity, associated with bilateral breast cancer and primary colorectal cancers. | 0.000814326 | 2013 | GALNT12 | 9 | 98831929 | C | T |
| rs1501299 | 25489716 | 9370 | ADIPOQ | umls:C0009402 | BeFree | To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs1501299 polymorphisms and the risk of colorectal cancer, and to analyze the role of the interaction between these two loci and environmental factors in colorectal cancer pathogenesis. | 0.003528744 | 2015 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1501299 | 25489716 | 9370 | ADIPOQ | umls:C1527249 | BeFree | To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs1501299 polymorphisms and the risk of colorectal cancer, and to analyze the role of the interaction between these two loci and environmental factors in colorectal cancer pathogenesis. | 0.012996872 | 2015 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1503185 | 19672627 | 5795 | PTPRJ | umls:C0009402 | BeFree | Compared with the major homozygotes at the Arg326Gln SNP in PTPRJ, a likely homologue of the mouse SCC1 (susceptible to colon cancer), Arg/Gln or Gln/Gln genotypes exhibited an increased colorectal cancer risk with adjusted odds ratios (aOR) of 1.71 (P = 0.021) and 3.74 (P = 4.14 x 10(-4)), respectively. | 0.001085767 | 2010 | PTPRJ | 11 | 48125070 | G | A |
| rs1503185 | 19672627 | 5795 | PTPRJ | umls:C1527249 | BeFree | Compared with the major homozygotes at the Arg326Gln SNP in PTPRJ, a likely homologue of the mouse SCC1 (susceptible to colon cancer), Arg/Gln or Gln/Gln genotypes exhibited an increased colorectal cancer risk with adjusted odds ratios (aOR) of 1.71 (P = 0.021) and 3.74 (P = 4.14 x 10(-4)), respectively. | 0.003452799 | 2010 | PTPRJ | 11 | 48125070 | G | A |
| rs150963282 | 18992148 | 4524 | MTHFR | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.106872745 | 2008 | MTHFR | 1 | 11800285 | G | T |
| rs150963282 | 18992148 | 3576 | CXCL8 | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.025722303 | 2008 | MTHFR | 1 | 11800285 | G | T |
| rs150963282 | 18992148 | 5742 | PTGS1 | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.010901282 | 2008 | MTHFR | 1 | 11800285 | G | T |
| rs1562430 | 25302443 | 727677 | CASC8 | umls:C1527249 | 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 | 25302443 | 727677 | CASC8 | umls:C0009402 | 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 |
| rs156697 | 21113667 | 119391 | GSTO2 | umls:C1527249 | BeFree | Association between N142D genetic polymorphism of GSTO2 and susceptibility to colorectal cancer. | 0.002638474 | 2011 | GSTO2 | 10 | 104279427 | A | G |
| rs1573496 | 23149980 | 131 | ADH7 | umls:C1527249 | BeFree | However, the relationship between alcohol and CRC risk might be modulated by the rs1573496 (ADH7) polymorphism. | 0.000271442 | 2012 | ADH7 | 4 | 99428512 | C | G |
| rs1573496 | 23149980 | 131 | ADH7 | umls:C0009402 | BeFree | However, the relationship between alcohol and CRC risk might be modulated by the rs1573496 (ADH7) polymorphism. | 0.000271442 | 2012 | ADH7 | 4 | 99428512 | C | G |
| rs1625649 | 20091185 | 4255 | MGMT | umls:C0009402 | BeFree | The MGMT -535G>T polymorphism (rs1625649) was found to be correlated with PFS in patients with advanced colorectal cancer treated with oxaliplatin-based chemotherapy. | 0.014386419 | 2010 | MGMT | 10 | 129466667 | A | C |
| rs1625649 | 20091185 | 4255 | MGMT | umls:C1527249 | BeFree | The MGMT -535G>T polymorphism (rs1625649) was found to be correlated with PFS in patients with advanced colorectal cancer treated with oxaliplatin-based chemotherapy. | 0.033322675 | 2010 | MGMT | 10 | 129466667 | A | C |
| rs1643659 | 20615890 | 1719 | DHFR | umls:C1527249 | BeFree | In the log additive model, two linked (r(2) = 0.99) tagSNPs in the DHFR gene (rs1677693 and rs1643659) were associated with a significant decrease in colorectal cancer risk after correction for multiple testing (odds ratio, 0.87; 95% confidence interval, 0.71-0.94; P = 0.029; and odds ratio, 0.87; 95% confidence interval, 0.71-0.95; P = 0.034 for rs1677693 and rs1643659, respectively). | 0.005819831 | 2010 | DHFR | 5 | 80639017 | T | C |
| rs1643659 | 20615890 | 1719 | DHFR | umls:C0009402 | BeFree | In the log additive model, two linked (r(2) = 0.99) tagSNPs in the DHFR gene (rs1677693 and rs1643659) were associated with a significant decrease in colorectal cancer risk after correction for multiple testing (odds ratio, 0.87; 95% confidence interval, 0.71-0.94; P = 0.029; and odds ratio, 0.87; 95% confidence interval, 0.71-0.95; P = 0.034 for rs1677693 and rs1643659, respectively). | 0.001085767 | 2010 | DHFR | 5 | 80639017 | T | C |
| rs1665650 | 23263487 | 259217 | HSPA12A | umls:C1527249 | GWASCAT | Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. | 0.12 | 2013 | HSPA12A | 10 | 116727589 | T | C |
| rs1677693 | 20615890 | 1719 | DHFR | umls:C0009402 | BeFree | In the log additive model, two linked (r(2) = 0.99) tagSNPs in the DHFR gene (rs1677693 and rs1643659) were associated with a significant decrease in colorectal cancer risk after correction for multiple testing (odds ratio, 0.87; 95% confidence interval, 0.71-0.94; P = 0.029; and odds ratio, 0.87; 95% confidence interval, 0.71-0.95; P = 0.034 for rs1677693 and rs1643659, respectively). | 0.001085767 | 2010 | DHFR | 5 | 80640499 | G | T |
| rs1677693 | 20615890 | 1719 | DHFR | umls:C1527249 | BeFree | In the log additive model, two linked (r(2) = 0.99) tagSNPs in the DHFR gene (rs1677693 and rs1643659) were associated with a significant decrease in colorectal cancer risk after correction for multiple testing (odds ratio, 0.87; 95% confidence interval, 0.71-0.94; P = 0.029; and odds ratio, 0.87; 95% confidence interval, 0.71-0.95; P = 0.034 for rs1677693 and rs1643659, respectively). | 0.005819831 | 2010 | DHFR | 5 | 80640499 | G | T |
| rs16847024 | 24562971 | 1591 | CYP24A1 | umls:C1527249 | BeFree | Two SNPs, rs16847024 in the GC gene and rs6022990 in the CYP24A1 gene, were nominally associated with left-sided CRC (p = 0.015 and p = 0.018, respectively). | 0.001628651 | 2014 | GC | 4 | 71784962 | C | T |
| rs16847024 | 24562971 | 1591 | CYP24A1 | umls:C0009402 | BeFree | Two SNPs, rs16847024 in the GC gene and rs6022990 in the CYP24A1 gene, were nominally associated with left-sided CRC (p = 0.015 and p = 0.018, respectively). | 0.001628651 | 2014 | GC | 4 | 71784962 | C | T |
| rs16879334 | 26108676 | 7298 | TYMS | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.111758699 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 7799 | PRDM2 | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.001085767 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 7799 | PRDM2 | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.003724241 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 5447 | POR | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000271442 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 5447 | POR | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000271442 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 7298 | TYMS | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.032573025 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 4522 | MTHFD1 | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.015016517 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 4552 | MTRR | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.035581425 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 4522 | MTHFD1 | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000814326 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16879334 | 26108676 | 4552 | MTRR | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.002442977 | 2015 | MTRR | 5 | 7891393 | C | G |
| rs16892766 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 18372905 | 8667 | EIF3H | umls:C1527249 | BeFree | In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. | 0.010282454 | 2008 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 18372905 | 8667 | EIF3H | umls:C1527249 | GAD | [In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H.] | 0.010282454 | 2008 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | NA | 8 | 116618444 | A | C |
| rs16892766 | 18372905 | 8667 | EIF3H | umls:C0009402 | BeFree | In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. | 0.000814326 | 2008 | NA | 8 | 116618444 | A | C |
| rs16892766 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | NA | 8 | 116618444 | A | C |
| rs16902094 | 25315430 | 5462 | POU5F1B | umls:C0009402 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000271442 | 2015 | CASC8;CASC21 | 8 | 127308101 | A | G |
| rs16902094 | 25315430 | 5462 | POU5F1B | umls:C1527249 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000271442 | 2015 | CASC8;CASC21 | 8 | 127308101 | A | G |
| rs16902094 | 25315430 | 101867536 | PRNCR1 | umls:C0009402 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000542884 | 2015 | CASC8;CASC21 | 8 | 127308101 | A | G |
| rs16902094 | 25315430 | 101867536 | PRNCR1 | umls:C1527249 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000542884 | 2015 | CASC8;CASC21 | 8 | 127308101 | A | G |
| rs16906252 | 19734844 | 4255 | MGMT | umls:C1527249 | BeFree | MGMT methylation is associated primarily with the germline C>T SNP (rs16906252) in colorectal cancer and normal colonic mucosa. | 0.033322675 | 2009 | MGMT | 10 | 129467281 | C | T |
| rs16906252 | 19734844 | 4255 | MGMT | umls:C0009402 | BeFree | MGMT methylation is associated primarily with the germline C>T SNP (rs16906252) in colorectal cancer and normal colonic mucosa. | 0.014386419 | 2009 | MGMT | 10 | 129467281 | C | T |
| rs16944 | 23192617 | 3552 | IL1A | umls:C0009402 | BeFree | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T>C (rs419598) cytokine polymorphisms are correlated with colorectal cancer. | 0.001085767 | 2013 | IL1B | 2 | 112837290 | A | G |
| rs16944 | 23192617 | 3552 | IL1A | umls:C1527249 | BeFree | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T>C (rs419598) cytokine polymorphisms are correlated with colorectal cancer. | 0.005819831 | 2013 | IL1B | 2 | 112837290 | A | G |
| rs1695 | 21711092 | 2950 | GSTP1 | umls:C1527249 | BeFree | GSTP1 I105V polymorphism and susceptibility to colorectal cancer in Kashmiri population. | 0.089500466 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 12072547 | 2950 | GSTP1 | umls:C0009402 | BeFree | The GSTP1 Ile(105)Val polymorphism is associated in a dose-dependent fashion with increased survival of patients with advanced colorectal cancer receiving 5-FU/oxaliplatin chemotherapy. | 0.011867498 | 2002 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20207535 | 373156 | GSTK1 | umls:C1527249 | BeFree | Controversy exists about whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, GSTP1 Ile105Val and GSTA1 *A/*B) represent risk factors for colorectal cancer. | 0.007600372 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20207535 | 373156 | GSTK1 | umls:C0009402 | BeFree | Controversy exists about whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, GSTP1 Ile105Val and GSTA1 *A/*B) represent risk factors for colorectal cancer. | 0.007057489 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23811488 | 2950 | GSTP1 | umls:C1527249 | BeFree | GSTP1 Ile105Val polymorphism and colorectal cancer risk: an updated analysis. | 0.089500466 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 2950 | GSTP1 | umls:C0009402 | BeFree | We also found that GSTP1 Ile105Val might modify the association between intake of poultry cooked with high temperature methods and CRC risk (p = 0.0035), a finding that was stronger among rectal cancer cases. | 0.011867498 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17404745 | 2950 | GSTP1 | umls:C1527249 | BeFree | Based on the obtained protective effect of Ile/Val GSTP1 genotype, we could suggest that Ile(105)Val GSTP1 polymorphism may play some role in susceptibility to CRC. | 0.089500466 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23811488 | 27306 | HPGDS | umls:C1527249 | BeFree | Many studies have investigated the association between the Glutathione S transferase-P1 (GSTP1) Ile105Val polymorphism and colorectal cancer (CRC) susceptibility, but the results were conflicting. | 0.012214884 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18797455 | 2950 | GSTP1 | umls:C0009402 | BeFree | GSTP1 Ile105Val polymorphism correlates with progression-free survival in MCRC patients treated with or without irinotecan: a study of the Dutch Colorectal Cancer Group. | 0.011867498 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 2950 | GSTP1 | umls:C1527249 | BeFree | We also found that GSTP1 Ile105Val might modify the association between intake of poultry cooked with high temperature methods and CRC risk (p = 0.0035), a finding that was stronger among rectal cancer cases. | 0.089500466 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20207535 | 2950 | GSTP1 | umls:C0009402 | BeFree | Controversy exists about whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, GSTP1 Ile105Val and GSTA1 *A/*B) represent risk factors for colorectal cancer. | 0.011867498 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23811488 | 27306 | HPGDS | umls:C0009402 | BeFree | Many studies have investigated the association between the Glutathione S transferase-P1 (GSTP1) Ile105Val polymorphism and colorectal cancer (CRC) susceptibility, but the results were conflicting. | 0.011943442 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20207535 | 133482 | SLCO6A1 | umls:C0009402 | BeFree | Controversy exists about whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, GSTP1 Ile105Val and GSTA1 *A/*B) represent risk factors for colorectal cancer. | 0.007057489 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20207535 | 133482 | SLCO6A1 | umls:C1527249 | BeFree | Controversy exists about whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, GSTP1 Ile105Val and GSTA1 *A/*B) represent risk factors for colorectal cancer. | 0.007600372 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20207535 | 2950 | GSTP1 | umls:C1527249 | BeFree | Controversy exists about whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, GSTP1 Ile105Val and GSTA1 *A/*B) represent risk factors for colorectal cancer. | 0.089500466 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17404745 | 2950 | GSTP1 | umls:C0009402 | BeFree | Ile105Val GSTP1 polymorphism and susceptibility to colorectal carcinoma in Bulgarian population. | 0.011867498 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23811488 | 2950 | GSTP1 | umls:C0009402 | BeFree | GSTP1 Ile105Val polymorphism and colorectal cancer risk: an updated analysis. | 0.011867498 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 12072547 | 2950 | GSTP1 | umls:C1527249 | BeFree | The GSTP1 Ile(105)Val polymorphism is associated in a dose-dependent fashion with increased survival of patients with advanced colorectal cancer receiving 5-FU/oxaliplatin chemotherapy. | 0.089500466 | 2002 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21711092 | 2950 | GSTP1 | umls:C0009402 | BeFree | GSTP1 I105V polymorphism and susceptibility to colorectal cancer in Kashmiri population. | 0.011867498 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 18797455 | 2950 | GSTP1 | umls:C1527249 | BeFree | GSTP1 Ile105Val polymorphism correlates with progression-free survival in MCRC patients treated with or without irinotecan: a study of the Dutch Colorectal Cancer Group. | 0.089500466 | 2008 | GSTP1 | 11 | 67585218 | A | G |
| rs16969681 | 25131200 | 1045 | CDX2 | umls:C0009402 | BeFree | The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. | 0.012214884 | 2014 | NA | 15 | 32700910 | C | T |
| rs16969681 | 21655089 | 26585 | GREM1 | umls:C1527249 | BeFree | Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). | 0.125624334 | 2011 | NA | 15 | 32700910 | C | T |
| rs16969681 | 25131200 | 26585 | GREM1 | umls:C0009402 | BeFree | The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. | 0.003257302 | 2014 | NA | 15 | 32700910 | C | T |
| rs16969681 | 25131200 | 6934 | TCF7L2 | umls:C0009402 | BeFree | The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. | 0.011400559 | 2014 | NA | 15 | 32700910 | C | T |
| rs16969681 | 25131200 | 26585 | GREM1 | umls:C1527249 | BeFree | The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. | 0.125624334 | 2014 | NA | 15 | 32700910 | C | T |
| rs16969681 | 25131200 | 6934 | TCF7L2 | umls:C1527249 | BeFree | The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. | 0.135863181 | 2014 | NA | 15 | 32700910 | C | T |
| rs16969681 | 25131200 | 1045 | CDX2 | umls:C1527249 | BeFree | The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. | 0.013496149 | 2014 | NA | 15 | 32700910 | C | T |
| rs16969681 | 21655089 | 26585 | GREM1 | umls:C0009402 | BeFree | Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). | 0.003257302 | 2011 | NA | 15 | 32700910 | C | T |
| rs17217772 | 22581703 | 4436 | MSH2 | umls:C1527249 | BeFree | The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients. | 0.14378884 | 2012 | MSH2 | 2 | 47410107 | A | G,T |
| rs17217772 | 22581703 | 4436 | MSH2 | umls:C0009402 | BeFree | The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients. | 0.063245956 | 2012 | MSH2 | 2 | 47410107 | A | G,T |
| rs17281995 | 20971123 | 942 | CD86 | umls:C0009402 | BeFree | Polymorphisms affecting micro-RNA regulation and associated with the risk of dietary-related cancers: a review from the literature and new evidence for a functional role of rs17281995 (CD86) and rs1051690 (INSR), previously associated with colorectal cancer. | 0.000814326 | 2011 | CD86 | 3 | 122120794 | G | C |
| rs17281995 | 20971123 | 942 | CD86 | umls:C1527249 | BeFree | Polymorphisms affecting micro-RNA regulation and associated with the risk of dietary-related cancers: a review from the literature and new evidence for a functional role of rs17281995 (CD86) and rs1051690 (INSR), previously associated with colorectal cancer. | 0.003181358 | 2011 | CD86 | 3 | 122120794 | G | C |
| rs17350795 | 26108676 | 7298 | TYMS | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.111758699 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 4522 | MTHFD1 | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.015016517 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 7298 | TYMS | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.032573025 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 5447 | POR | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000271442 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 7799 | PRDM2 | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.001085767 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 5447 | POR | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000271442 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 4552 | MTRR | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.035581425 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 7799 | PRDM2 | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.003724241 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 4552 | MTRR | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.002442977 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs17350795 | 26108676 | 4522 | MTHFD1 | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000814326 | 2015 | PRDM2 | 1 | 13779144 | G | A |
| rs174537 | 24836286 | 745 | MYRF | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | MYRF | 11 | 61785208 | G | T |
| rs175080 | 15193445 | 27030 | MLH3 | umls:C0009402 | BeFree | No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | 0.002171535 | 2004 | MLH3 | 14 | 75047125 | G | A |
| rs175080 | 15193445 | 27030 | MLH3 | umls:C1527249 | BeFree | No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | 0.011639663 | 2004 | MLH3 | 14 | 75047125 | G | A |
| rs17576 | 20662554 | 4312 | MMP1 | umls:C0009402 | BeFree | The aim of this study was to investigate the association of single-nucleotide polymorphism (SNP) at MMP-1 16071G/2G, MMP-7 181A/G, and MMP-9 279R/Q genes with CRC in the southwest Chinese Han population. | 0.005428837 | 2010 | MMP9 | 20 | 46011586 | A | G |
| rs17576 | 20662554 | 4318 | MMP9 | umls:C1527249 | BeFree | The MMP-9 279R/Q alleles and genotypes may be associated with the risk of CRC in Han Chinese. | 0.0205213 | 2010 | MMP9 | 20 | 46011586 | A | G |
| rs17576 | 20662554 | 4318 | MMP9 | umls:C0009402 | BeFree | The MMP-9 279R/Q alleles and genotypes may be associated with the risk of CRC in Han Chinese. | 0.00868614 | 2010 | MMP9 | 20 | 46011586 | A | G |
| rs17576 | 20662554 | 4312 | MMP1 | umls:C1527249 | BeFree | The aim of this study was to investigate the association of single-nucleotide polymorphism (SNP) at MMP-1 16071G/2G, MMP-7 181A/G, and MMP-9 279R/Q genes with CRC in the southwest Chinese Han population. | 0.026732125 | 2010 | MMP9 | 20 | 46011586 | A | G |
| rs17655 | 21561390 | 2073 | ERCC5 | umls:C1527249 | BeFree | The aim of this study was to investigate the associations between the APE1 Asp148Glu, hOGG1 Ser326Cys, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His polymorphisms and CRC risk in Turkish population. | 0.015830843 | 2011 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 25332048 | 2073 | ERCC5 | umls:C1527249 | BeFree | Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementation group G (XPG) was associated with the susceptibility to colorectal cancer (CRC), although the results were inconsistent. | 0.015830843 | 2014 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 25332048 | 2073 | ERCC5 | umls:C0009402 | BeFree | Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementation group G (XPG) was associated with the susceptibility to colorectal cancer (CRC), although the results were inconsistent. | 0.001900093 | 2014 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 21561390 | 2073 | ERCC5 | umls:C0009402 | BeFree | The aim of this study was to investigate the associations between the APE1 Asp148Glu, hOGG1 Ser326Cys, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His polymorphisms and CRC risk in Turkish population. | 0.001900093 | 2011 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17782313 | 22511254 | 4160 | MC4R | umls:C1527249 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.002909916 | 2012 | NA | 18 | 60183864 | T | C |
| rs17782313 | 22511254 | 79047 | KCTD15 | umls:C1527249 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.000271442 | 2012 | NA | 18 | 60183864 | T | C |
| rs17782313 | 22511254 | 79047 | KCTD15 | umls:C0009402 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.000271442 | 2012 | NA | 18 | 60183864 | T | C |
| rs17782313 | 22511254 | 4160 | MC4R | umls:C0009402 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.000542884 | 2012 | NA | 18 | 60183864 | T | C |
| rs17824591 | 23893618 | 4522 | MTHFD1 | umls:C1527249 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.015016517 | 2013 | MTHFD1 | 14 | 64420993 | G | A |
| rs17824591 | 23893618 | 4522 | MTHFD1 | umls:C0009402 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.000814326 | 2013 | MTHFD1 | 14 | 64420993 | G | A |
| rs17824591 | 23893618 | 7298 | TYMS | umls:C1527249 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.111758699 | 2013 | MTHFD1 | 14 | 64420993 | G | A |
| rs17824591 | 23893618 | 7298 | TYMS | umls:C0009402 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.032573025 | 2013 | MTHFD1 | 14 | 64420993 | G | A |
| rs17864678 | 24822274 | 54575 | UGT1A10 | umls:C0009402 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | UGT1A10;UGT1A8 | 2 | 233635964 | T | A |
| rs17864678 | 24822274 | 54575 | UGT1A10 | umls:C1527249 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | UGT1A10;UGT1A8 | 2 | 233635964 | T | A |
| rs1799782 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18806752 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.012681823 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21612998 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.012681823 | 2011 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 23857281 | 7515 | XRCC1 | umls:C1527249 | BeFree | The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC, particularly colon cancer. | 0.062389495 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18806752 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.062389495 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21612998 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.062389495 | 2011 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 23857281 | 7515 | XRCC1 | umls:C0009402 | BeFree | The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC, particularly colon cancer. | 0.012681823 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | XRCC1 | 19 | 43553422 | G | A |
| rs1799793 | 17363013 | 2068 | ERCC2 | umls:C1527249 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.057503541 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 17363013 | 7508 | XPC | umls:C0009402 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.003257302 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 17363013 | 2068 | ERCC2 | umls:C0009402 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.010434343 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 17363013 | 7507 | XPA | umls:C0009402 | BeFree | We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn, and interactions between the polymorphisms and the environmental factors: smoking intensity, intake of alcohol, red meat, processed meat, fish and poultry, fruits and vegetables and dietary fibres, in relation to development of colorectal cancer in a study population of 405 colorectal cancer cases and a comparison group of 810 persons, nested within the Danish prospective cohort, Diet, Cancer and Health, of 57053 cohort members. | 0.000814326 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 17363013 | 7507 | XPA | umls:C1527249 | BeFree | We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn, and interactions between the polymorphisms and the environmental factors: smoking intensity, intake of alcohol, red meat, processed meat, fish and poultry, fruits and vegetables and dietary fibres, in relation to development of colorectal cancer in a study population of 405 colorectal cancer cases and a comparison group of 810 persons, nested within the Danish prospective cohort, Diet, Cancer and Health, of 57053 cohort members. | 0.007915422 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 17363013 | 7508 | XPC | umls:C1527249 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.007448483 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | ERCC2 | 19 | 45364001 | C | T |
| rs1799889 | 21422408 | 4524 | MTHFR | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.106872745 | 2011 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799889 | 21422408 | 5054 | SERPINE1 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.010901282 | 2011 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799889 | 21422408 | 5054 | SERPINE1 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.004071628 | 2011 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799889 | 21422408 | 2147 | F2 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.005276948 | 2011 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799889 | 21422408 | 2147 | F2 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.000542884 | 2011 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799889 | 21422408 | 4524 | MTHFR | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.026329862 | 2011 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799930 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | NAT2 | 8 | 18400593 | G | A |
| rs1799930 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | NAT2 | 8 | 18400593 | G | A |
| rs1799930 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | NAT2 | 8 | 18400593 | G | A |
| rs1799930 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | NAT2 | 8 | 18400593 | G | A |
| rs1799930 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | NAT2 | 8 | 18400593 | G | A |
| rs1799930 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | NAT2 | 8 | 18400593 | G | A |
| rs1799931 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | NAT2 | 8 | 18400860 | G | A |
| rs1799931 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | NAT2 | 8 | 18400860 | G | A |
| rs1799931 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | NAT2 | 8 | 18400860 | G | A |
| rs1799931 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | NAT2 | 8 | 18400860 | G | A |
| rs1799931 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | NAT2 | 8 | 18400860 | G | A |
| rs1799931 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | NAT2 | 8 | 18400860 | G | A |
| rs1799963 | 21422408 | 4524 | MTHFR | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.106872745 | 2011 | F2 | 11 | 46739505 | G | A |
| rs1799963 | 21422408 | 2147 | F2 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.000542884 | 2011 | F2 | 11 | 46739505 | G | A |
| rs1799963 | 21422408 | 4524 | MTHFR | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.026329862 | 2011 | F2 | 11 | 46739505 | G | A |
| rs1799963 | 21422408 | 2147 | F2 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.005276948 | 2011 | F2 | 11 | 46739505 | G | A |
| rs1799963 | 21422408 | 5054 | SERPINE1 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.004071628 | 2011 | F2 | 11 | 46739505 | G | A |
| rs1799963 | 21422408 | 5054 | SERPINE1 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.010901282 | 2011 | F2 | 11 | 46739505 | G | A |
| rs1799969 | 16937502 | 5468 | PPARG | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.038990617 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16937502 | 3576 | CXCL8 | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.006786047 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16937502 | 7124 | TNF | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.036623585 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16937502 | 7124 | TNF | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16937502 | 3576 | CXCL8 | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.025722303 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16937502 | 5468 | PPARG | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799983 | 21706163 | 4846 | NOS3 | umls:C1527249 | BeFree | The effects of NOS3 Glu298Asp variant on colorectal cancer risk and progression in Turkish population. | 0.011096779 | 2012 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 21706163 | 4846 | NOS3 | umls:C0009402 | BeFree | The effects of NOS3 Glu298Asp variant on colorectal cancer risk and progression in Turkish population. | 0.001628651 | 2012 | NOS3 | 7 | 150999023 | T | G |
| rs1799990 | 20564346 | 5621 | PRNP | umls:C0009402 | BeFree | Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer. | 0.001085767 | 2010 | PRNP | 20 | 4699605 | A | G |
| rs1799990 | 20564346 | 5621 | PRNP | umls:C1527249 | BeFree | Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer. | 0.003452799 | 2010 | PRNP | 20 | 4699605 | A | G |
| rs1800056 | 17000706 | 4524 | MTHFR | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.026329862 | 2006 | ATM | 11 | 108267276 | T | C |
| rs1800056 | 17000706 | 4524 | MTHFR | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.106872745 | 2006 | ATM | 11 | 108267276 | T | C |
| rs1800056 | 17000706 | 472 | ATM | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.003995683 | 2006 | ATM | 11 | 108267276 | T | C |
| rs1800056 | 17000706 | 472 | ATM | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.002442977 | 2006 | ATM | 11 | 108267276 | T | C |
| rs1800057 | 17000706 | 472 | ATM | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.003995683 | 2006 | ATM | 11 | 108272729 | C | G |
| rs1800057 | 17000706 | 4524 | MTHFR | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.106872745 | 2006 | ATM | 11 | 108272729 | C | G |
| rs1800057 | 17000706 | 472 | ATM | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.002442977 | 2006 | ATM | 11 | 108272729 | C | G |
| rs1800057 | 17000706 | 4524 | MTHFR | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.026329862 | 2006 | ATM | 11 | 108272729 | C | G |
| rs1800371 | 20449797 | 7157 | TP53 | umls:C0009402 | BeFree | TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. | 0.084734064 | 2010 | TP53 | 17 | 7676230 | G | A |
| rs1800371 | 20449797 | 7157 | TP53 | umls:C1527249 | BeFree | TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. | 0.16 | 2010 | TP53 | 17 | 7676230 | G | A |
| rs1800440 | 20878130 | 1545 | CYP1B1 | umls:C0009402 | BeFree | Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) were at a significantly lower risk of colorectal cancer compared to carriers of the wild-type allele (adjusted odds ratio, aOR=0.68, CI=0.51-0.89, p=0.006). | 0.003257302 | 2010 | CYP1B1 | 2 | 38070996 | T | G,C |
| rs1800440 | 20878130 | 1545 | CYP1B1 | umls:C1527249 | BeFree | Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) were at a significantly lower risk of colorectal cancer compared to carriers of the wild-type allele (adjusted odds ratio, aOR=0.68, CI=0.51-0.89, p=0.006). | 0.029837538 | 2010 | CYP1B1 | 2 | 38070996 | T | G,C |
| rs1800449 | 25112403 | 4015 | LOX | umls:C1527249 | BeFree | Lysyl oxidase rs1800449 polymorphism and cancer risk among Asians: evidence from a meta-analysis and a case-control study of colorectal cancer. | 0.001900093 | 2014 | LOX | 5 | 122077513 | C | T |
| rs1800449 | 25112403 | 4015 | LOX | umls:C0009402 | BeFree | Lysyl oxidase rs1800449 polymorphism and cancer risk among Asians: evidence from a meta-analysis and a case-control study of colorectal cancer. | 0.001900093 | 2014 | LOX | 5 | 122077513 | C | T |
| rs1800469 | 24836286 | 7040 | TGFB1 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.149717986 | 2014 | TGFB1;B9D2 | 19 | 41354391 | A | G |
| rs1800469 | 24836286 | 80776 | B9D2 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | TGFB1;B9D2 | 19 | 41354391 | A | G |
| rs1800562 | 12948285 | 3077 | HFE | umls:C1527249 | BeFree | Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands). | 0.016102285 | 2003 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23553028 | 3077 | HFE | umls:C1527249 | BeFree | HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis. | 0.016102285 | 2013 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 12948285 | 3077 | HFE | umls:C0009402 | BeFree | Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands). | 0.001900093 | 2003 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23281741 | 3077 | HFE | umls:C1527249 | BeFree | In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of colorectal cancer and breast cancer. | 0.016102285 | 2013 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23281741 | 3077 | HFE | umls:C0009402 | BeFree | In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of colorectal cancer and breast cancer. | 0.001900093 | 2013 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 20099304 | 3077 | HFE | umls:C1527249 | BeFree | HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. | 0.016102285 | 2010 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 20099304 | 3077 | HFE | umls:C0009402 | BeFree | HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. | 0.001900093 | 2010 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23553028 | 3077 | HFE | umls:C0009402 | BeFree | HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis. | 0.001900093 | 2013 | HFE | 6 | 26092913 | G | A |
| rs1800566 | 22215148 | 1429 | CRYZ | umls:C0009402 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism is found to have a lower enzymatic activity, which may result in increased incidence of several kinds of carcinomas including colorectal cancer. | 0.001900093 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22306249 | 1728 | NQO1 | umls:C1527249 | BeFree | Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and risk of colorectal adenoma and colorectal cancer in Caucasians: a meta-analysis. | 0.03430016 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22215148 | 1728 | NQO1 | umls:C0009402 | BeFree | Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a meta-analysis. | 0.003528744 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22215148 | 1728 | NQO1 | umls:C1527249 | BeFree | Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a meta-analysis. | 0.03430016 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 16702380 | 1728 | NQO1 | umls:C1527249 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and the risk of lung, bladder, and colorectal cancers: a meta-analysis. | 0.03430016 | 2006 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22215148 | 1429 | CRYZ | umls:C1527249 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism is found to have a lower enzymatic activity, which may result in increased incidence of several kinds of carcinomas including colorectal cancer. | 0.002171535 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 20593958 | 1728 | NQO1 | umls:C1527249 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition in the ethnic Kashmiri population. | 0.03430016 | 2010 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 24142528 | 1728 | NQO1 | umls:C0009402 | BeFree | Meta-analysis of the association between NQO1 Pro187Ser polymorphism and colorectal cancer in Asians. | 0.003528744 | 2013 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 20593958 | 1429 | CRYZ | umls:C0009402 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition in the ethnic Kashmiri population. | 0.001900093 | 2010 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 20593958 | 1429 | CRYZ | umls:C1527249 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition in the ethnic Kashmiri population. | 0.002171535 | 2010 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 16702380 | 1728 | NQO1 | umls:C0009402 | BeFree | Results from our meta-analyses suggest that the variant NQO1 Pro187Ser genotype may affect individual susceptibility to lung, bladder, and colorectal cancer. | 0.003528744 | 2006 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 20593958 | 1728 | NQO1 | umls:C0009402 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition in the ethnic Kashmiri population. | 0.003528744 | 2010 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 24142528 | 1728 | NQO1 | umls:C1527249 | BeFree | Meta-analysis of the association between NQO1 Pro187Ser polymorphism and colorectal cancer in Asians. | 0.03430016 | 2013 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22306249 | 1728 | NQO1 | umls:C0009402 | BeFree | Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and risk of colorectal adenoma and colorectal cancer in Caucasians: a meta-analysis. | 0.003528744 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 16702380 | 1429 | CRYZ | umls:C1527249 | BeFree | NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and the risk of lung, bladder, and colorectal cancers: a meta-analysis. | 0.002171535 | 2006 | NQO1 | 16 | 69711242 | G | A |
| rs1800734 | 22294770 | 4292 | MLH1 | umls:C0009402 | BeFree | When candidate SNPs were examined, our data did not support most of the previously reported associations with CRC susceptibility, an exception being an effect of the MLH1 promoter SNP -93G>A (rs1800734). | 0.082367032 | 2012 | MLH1;EPM2AIP1 | 3 | 36993455 | G | A |
| rs1800734 | 22294770 | 4292 | MLH1 | umls:C1527249 | BeFree | When candidate SNPs were examined, our data did not support most of the previously reported associations with CRC susceptibility, an exception being an effect of the MLH1 promoter SNP -93G>A (rs1800734). | 0.16 | 2012 | MLH1;EPM2AIP1 | 3 | 36993455 | G | A |
| rs1800734 | 23240038 | 4292 | MLH1 | umls:C0009402 | BeFree | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 0.082367032 | 2012 | MLH1;EPM2AIP1 | 3 | 36993455 | G | A |
| rs1800734 | 23240038 | 4292 | MLH1 | umls:C1527249 | BeFree | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 0.16 | 2012 | MLH1;EPM2AIP1 | 3 | 36993455 | G | A |
| rs1800734 | 20967208 | 4292 | MLH1 | umls:C1527249 | BeFree | We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples. | 0.16 | 2010 | MLH1;EPM2AIP1 | 3 | 36993455 | G | A |
| rs1800795 | 17694420 | 3569 | IL6 | umls:C1527249 | BeFree | Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rectal (N = 794 cases and N = 1005 controls) cancer were used to evaluate the association between the rs1800795 and rs1800796 IL6 polymorphisms and CRC. | 0.035809259 | 2007 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800795 | 17694420 | 3569 | IL6 | umls:C0009402 | BeFree | Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rectal (N = 794 cases and N = 1005 controls) cancer were used to evaluate the association between the rs1800795 and rs1800796 IL6 polymorphisms and CRC. | 0.012214884 | 2007 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800796 | 17694420 | 3569 | IL6 | umls:C0009402 | BeFree | Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rectal (N = 794 cases and N = 1005 controls) cancer were used to evaluate the association between the rs1800795 and rs1800796 IL6 polymorphisms and CRC. | 0.012214884 | 2007 | IL6;LOC541472 | 7 | 22726627 | G | C |
| rs1800796 | 17694420 | 3569 | IL6 | umls:C1527249 | BeFree | Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rectal (N = 794 cases and N = 1005 controls) cancer were used to evaluate the association between the rs1800795 and rs1800796 IL6 polymorphisms and CRC. | 0.035809259 | 2007 | IL6;LOC541472 | 7 | 22726627 | G | C |
| rs1800871 | 24557062 | 3586 | IL10 | umls:C0009402 | BeFree | We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10) gene were associated with increased risk for CRC in the Han Chinese. | 0.005971721 | 2015 | IL10 | 1 | 206773289 | A | G |
| rs1800871 | 24557062 | 3586 | IL10 | umls:C1527249 | BeFree | We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10) gene were associated with increased risk for CRC in the Han Chinese. | 0.012801375 | 2015 | IL10 | 1 | 206773289 | A | G |
| rs1800872 | 24889212 | 3586 | IL10 | umls:C0009402 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.005971721 | 2014 | IL10 | 1 | 206773062 | T | G |
| rs1800872 | 24889212 | 3586 | IL10 | umls:C1527249 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.012801375 | 2014 | IL10 | 1 | 206773062 | T | G |
| rs1800872 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | IL10 | 1 | 206773062 | T | G |
| rs1800872 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | IL10 | 1 | 206773062 | T | G |
| rs1800872 | 24889212 | 4609 | MYC | umls:C1527249 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.011324614 | 2014 | IL10 | 1 | 206773062 | T | G |
| rs1800872 | 24889212 | 4609 | MYC | umls:C0009402 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.011596056 | 2014 | IL10 | 1 | 206773062 | T | G |
| rs1800896 | 24446182 | 3553 | IL1B | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.017459494 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3586 | IL10 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005971721 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 6647 | SOD1 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001628651 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3605 | IL17A | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005428837 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3605 | IL17A | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005700279 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 7099 | TLR4 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.00434307 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 7099 | TLR4 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.008262808 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3553 | IL1B | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003257302 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3586 | IL10 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.012801375 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 6647 | SOD1 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001357209 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800947 | 24761881 | 1401 | CRP | umls:C1527249 | BeFree | Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibility to colorectal cancer: a meta-analysis. | 0.005624334 | 2015 | CRP | 1 | 159713648 | C | T,G,A |
| rs1800947 | 24761881 | 1401 | CRP | umls:C0009402 | BeFree | Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibility to colorectal cancer: a meta-analysis. | 0.003257302 | 2015 | CRP | 1 | 159713648 | C | T,G,A |
| rs1801131 | 23626689 | 2073 | ERCC5 | umls:C1527249 | BeFree | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. | 0.015830843 | 2013 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 23626689 | 4524 | MTHFR | umls:C1527249 | BeFree | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. | 0.106872745 | 2013 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 18992148 | 4524 | MTHFR | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.106872745 | 2008 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 18992148 | 3576 | CXCL8 | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.025722303 | 2008 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 18992148 | 5742 | PTGS1 | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.010901282 | 2008 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 23626689 | 2073 | ERCC5 | umls:C0009402 | BeFree | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. | 0.001900093 | 2013 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 23626689 | 4524 | MTHFR | umls:C0009402 | BeFree | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. | 0.026329862 | 2013 | MTHFR | 1 | 11794419 | T | G |
| rs1801133 | 21422408 | 2147 | F2 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.005276948 | 2011 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 21422408 | 4524 | MTHFR | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.026329862 | 2011 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 21422408 | 4524 | MTHFR | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.106872745 | 2011 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 23437053 | 4524 | MTHFR | umls:C1527249 | BeFree | The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies. | 0.106872745 | 2013 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 21422408 | 2147 | F2 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.000542884 | 2011 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 21422408 | 5054 | SERPINE1 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.010901282 | 2011 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 23437053 | 4524 | MTHFR | umls:C0009402 | BeFree | The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies. | 0.026329862 | 2013 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 21422408 | 5054 | SERPINE1 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.004071628 | 2011 | MTHFR | 1 | 11796321 | G | A |
| rs1801155 | 10756345 | 324 | APC | umls:C0009402 | BeFree | The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. | 0.075732282 | 2000 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11267860 | 324 | APC | umls:C0009402 | BeFree | To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria. | 0.075732282 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 14578136 | 324 | APC | umls:C1527249 | BeFree | The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews. | 0.24 | 2003 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10938175 | 324 | APC | umls:C0009402 | BeFree | The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenazi Jewish population and is associated with elevated risk of colorectal cancer. | 0.075732282 | 2000 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16228836 | 324 | APC | umls:C1527249 | BeFree | The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study population. | 0.24 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11551102 | 324 | APC | umls:C1527249 | BeFree | A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for colorectal cancer (CRC) and in the general population. | 0.24 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11354631 | 324 | APC | umls:C0009402 | BeFree | Lack of an increased APC I1307K carrier rate suggests that this mutation does not account for the increased CRC susceptibility associated with IBD. | 0.075732282 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9679945 | 324 | APC | umls:C0009402 | BeFree | An APC gene sequence alteration, the I1307K allele, occurs in 6% of the Ashkenazi Jewish population and is reported to double the risk for colorectal cancer. | 0.075732282 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9831355 | 4292 | MLH1 | umls:C0009402 | BeFree | I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. | 0.082367032 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9869602 | 324 | APC | umls:C0009402 | BeFree | Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer. | 0.075732282 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16537703 | 324 | APC | umls:C1527249 | BeFree | Here, we used this design to evaluate inherited susceptibility to prostate cancer associated with APC I1307K using data from the Molecular Epidemiology of Colorectal Cancer study. | 0.24 | 2006 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10938175 | 324 | APC | umls:C1527249 | BeFree | The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenazi Jewish population and is associated with elevated risk of colorectal cancer. | 0.24 | 2000 | APC | 5 | 112839514 | T | A |
| rs1801155 | 18343606 | 324 | APC | umls:C0009402 | BeFree | This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. | 0.075732282 | 2009 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9869603 | 324 | APC | umls:C1527249 | BeFree | The I1307K polymorphism of the APC gene in colorectal cancer. | 0.24 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16875934 | 324 | APC | umls:C1527249 | BeFree | The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features. | 0.24 | 2006 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9973276 | 324 | APC | umls:C0009402 | BeFree | We conclude that the APC I1307K variant leads to increased adenoma formation and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer. | 0.075732282 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11159880 | 324 | APC | umls:C0009402 | BeFree | APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. | 0.075732282 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9869602 | 324 | APC | umls:C1527249 | BeFree | Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer. | 0.24 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 18343606 | 324 | APC | umls:C1527249 | BeFree | This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. | 0.24 | 2009 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16537703 | 324 | APC | umls:C0009402 | BeFree | Here, we used this design to evaluate inherited susceptibility to prostate cancer associated with APC I1307K using data from the Molecular Epidemiology of Colorectal Cancer study. | 0.075732282 | 2006 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11159880 | 324 | APC | umls:C1527249 | BeFree | The I1307K allele of the APC gene has been shown to confer a modestly elevated risk of colorectal cancer in the Ashkenazi Jewish population (relative risk, 1.5-1.7). | 0.24 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16228836 | 324 | APC | umls:C0009402 | BeFree | The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study population. | 0.075732282 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16195945 | 324 | APC | umls:C1527249 | BeFree | This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk. | 0.24 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 15516844 | 324 | APC | umls:C0009402 | BeFree | The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increases the risk of colorectal cancer 1.5-2 fold. | 0.075732282 | 2004 | APC | 5 | 112839514 | T | A |
| rs1801155 | 15929773 | 324 | APC | umls:C1527249 | BeFree | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. | 0.24 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9831355 | 324 | APC | umls:C0009402 | BeFree | I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. | 0.075732282 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10756345 | 324 | APC | umls:C1527249 | BeFree | The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. | 0.24 | 2000 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10630180 | 324 | APC | umls:C0009402 | BeFree | A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. | 0.075732282 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10343885 | 324 | APC | umls:C1527249 | BeFree | An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was recently reported in 1 in 17 Ashkenazi Jewish persons, may double the risk for colorectal cancer in that population. | 0.24 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9407954 | 324 | APC | umls:C1527249 | BeFree | The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. | 0.24 | 1997 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10630180 | 324 | APC | umls:C1527249 | BeFree | A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. | 0.24 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9831355 | 324 | APC | umls:C1527249 | BeFree | I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. | 0.24 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 12822869 | 324 | APC | umls:C1527249 | BeFree | In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are seemingly similar to those of sporadic cases, but a larger study is clearly needed. | 0.24 | 2003 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16875934 | 324 | APC | umls:C0009402 | BeFree | The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features. | 0.075732282 | 2006 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10555757 | 324 | APC | umls:C0009402 | BeFree | The I1307K polymorphism in APC has been found to predispose to colorectal cancer in Ashkenazi Jews, and has recently been associated with an increased risk for breast cancer in the same population. | 0.075732282 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11354631 | 324 | APC | umls:C1527249 | BeFree | Lack of an increased APC I1307K carrier rate suggests that this mutation does not account for the increased CRC susceptibility associated with IBD. | 0.24 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 17854661 | 324 | APC | umls:C1527249 | BeFree | How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. | 0.24 | 2007 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9831355 | 4292 | MLH1 | umls:C1527249 | BeFree | I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. | 0.16 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11720476 | 324 | APC | umls:C1527249 | BeFree | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. | 0.24 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9973276 | 324 | APC | umls:C1527249 | BeFree | We conclude that the APC I1307K variant leads to increased adenoma formation and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer. | 0.24 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 12822869 | 324 | APC | umls:C0009402 | BeFree | In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are seemingly similar to those of sporadic cases, but a larger study is clearly needed. | 0.075732282 | 2003 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11551102 | 324 | APC | umls:C0009402 | BeFree | A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for colorectal cancer (CRC) and in the general population. | 0.075732282 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 16195945 | 324 | APC | umls:C0009402 | BeFree | This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk. | 0.075732282 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 14578136 | 324 | APC | umls:C0009402 | BeFree | The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews. | 0.075732282 | 2003 | APC | 5 | 112839514 | T | A |
| rs1801155 | 15929773 | 324 | APC | umls:C0009402 | BeFree | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. | 0.075732282 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 15733272 | 324 | APC | umls:C0009402 | BeFree | While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, there is a paucity of data on the natural history of colonic neoplasia in symptomatic and asymptomatic mutation carriers. | 0.075732282 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801155 | 15516844 | 324 | APC | umls:C1527249 | BeFree | The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increases the risk of colorectal cancer 1.5-2 fold. | 0.24 | 2004 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10343885 | 324 | APC | umls:C0009402 | BeFree | An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was recently reported in 1 in 17 Ashkenazi Jewish persons, may double the risk for colorectal cancer in that population. | 0.075732282 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9869603 | 324 | APC | umls:C0009402 | BeFree | The I1307K polymorphism of the APC gene in colorectal cancer. | 0.075732282 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9679945 | 324 | APC | umls:C1527249 | BeFree | An APC gene sequence alteration, the I1307K allele, occurs in 6% of the Ashkenazi Jewish population and is reported to double the risk for colorectal cancer. | 0.24 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801155 | 17854661 | 324 | APC | umls:C0009402 | BeFree | How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. | 0.075732282 | 2007 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9407954 | 324 | APC | umls:C0009402 | BeFree | The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. | 0.075732282 | 1997 | APC | 5 | 112839514 | T | A |
| rs1801155 | 11267860 | 324 | APC | umls:C1527249 | BeFree | To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria. | 0.24 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10555757 | 324 | APC | umls:C1527249 | BeFree | The I1307K polymorphism in APC has been found to predispose to colorectal cancer in Ashkenazi Jews, and has recently been associated with an increased risk for breast cancer in the same population. | 0.24 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801155 | 15733272 | 324 | APC | umls:C1527249 | BeFree | While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, there is a paucity of data on the natural history of colonic neoplasia in symptomatic and asymptomatic mutation carriers. | 0.24 | 2005 | APC | 5 | 112839514 | T | A |
| rs1801166 | 11267860 | 324 | APC | umls:C1527249 | BeFree | To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria. | 0.24 | 2001 | APC | 5 | 112839543 | G | C |
| rs1801166 | 14578138 | 324 | APC | umls:C1527249 | BeFree | The APC E1317Q variant in adenomatous polyps and colorectal cancers. | 0.24 | 2003 | APC | 5 | 112839543 | G | C |
| rs1801166 | 11267860 | 324 | APC | umls:C0009402 | BeFree | To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria. | 0.075732282 | 2001 | APC | 5 | 112839543 | G | C |
| rs1801166 | 15929773 | 324 | APC | umls:C1527249 | BeFree | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. | 0.24 | 2005 | APC | 5 | 112839543 | G | C |
| rs1801166 | 15929773 | 324 | APC | umls:C0009402 | BeFree | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. | 0.075732282 | 2005 | APC | 5 | 112839543 | G | C |
| rs1801166 | 18343606 | 324 | APC | umls:C1527249 | BeFree | This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. | 0.24 | 2009 | APC | 5 | 112839543 | G | C |
| rs1801166 | 18343606 | 324 | APC | umls:C0009402 | BeFree | This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. | 0.075732282 | 2009 | APC | 5 | 112839543 | G | C |
| rs1801270 | 20363991 | 5063 | PAK3 | umls:C0009402 | BeFree | Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and prognosis. | 0.001357209 | 2010 | CDKN1A | 6 | 36684194 | C | A,T |
| rs1801270 | 20363991 | 5063 | PAK3 | umls:C1527249 | BeFree | Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and prognosis. | 0.001357209 | 2010 | CDKN1A | 6 | 36684194 | C | A,T |
| rs1801278 | 24696264 | 3667 | IRS1 | umls:C1527249 | BeFree | Association between IRS-1 Gly972Arg polymorphism and colorectal cancer risk. | 0.014278137 | 2014 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801278 | 24696264 | 3667 | IRS1 | umls:C0009402 | BeFree | Association between IRS-1 Gly972Arg polymorphism and colorectal cancer risk. | 0.002985861 | 2014 | IRS1 | 2 | 226795828 | C | T,G,A |
| rs1801280 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | NAT2 | 8 | 18400344 | T | C |
| rs1801280 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | NAT2 | 8 | 18400344 | T | C |
| rs1801280 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | NAT2 | 8 | 18400344 | T | C |
| rs1801280 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | NAT2 | 8 | 18400344 | T | C |
| rs1801280 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | NAT2 | 8 | 18400344 | T | C |
| rs1801280 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | NAT2 | 8 | 18400344 | T | C |
| rs1801282 | 24552298 | 125 | ADH1B | umls:C0009402 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.001900093 | 2015 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 24552298 | 5468 | PPARG | umls:C1527249 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.038990617 | 2015 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16965392 | 5468 | PPARG | umls:C0009402 | BeFree | Meat, milk, saturated fatty acids, the Pro12Ala and C161T polymorphisms of the PPARgamma gene and colorectal cancer risk in Japanese. | 0.011129117 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 20596649 | 5468 | PPARG | umls:C0009402 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.011129117 | 2010 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16937502 | 5468 | PPARG | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.038990617 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16937502 | 7124 | TNF | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.036623585 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16937502 | 7124 | TNF | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 12839942 | 7124 | TNF | umls:C1527249 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.036623585 | 2003 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16108832 | 5468 | PPARG | umls:C1527249 | BeFree | Influence of the C161T but not Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma on colorectal cancer in an Indian population. | 0.038990617 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 24552298 | 125 | ADH1B | umls:C1527249 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.015830843 | 2015 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16108832 | 5468 | PPARG | umls:C0009402 | BeFree | Influence of the C161T but not Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma on colorectal cancer in an Indian population. | 0.011129117 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 15860437 | 5468 | PPARG | umls:C0009402 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.011129117 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 20596649 | 54512 | EXOSC4 | umls:C1527249 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.000814326 | 2010 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 12839942 | 7124 | TNF | umls:C0009402 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.011129117 | 2003 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16937502 | 3576 | CXCL8 | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.025722303 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 20596649 | 5468 | PPARG | umls:C1527249 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.038990617 | 2010 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16489531 | 54512 | EXOSC4 | umls:C0009402 | BeFree | In this study, we evaluated the association between colorectal cancer and specific tumor mutations and the Pro12Ala (P12A) PPARgamma polymorphism. | 0.000814326 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16937502 | 3576 | CXCL8 | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.006786047 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 15860437 | 54512 | EXOSC4 | umls:C0009402 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.000814326 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16489531 | 54512 | EXOSC4 | umls:C1527249 | BeFree | In this study, we evaluated the association between colorectal cancer and specific tumor mutations and the Pro12Ala (P12A) PPARgamma polymorphism. | 0.000814326 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 24552298 | 5468 | PPARG | umls:C0009402 | BeFree | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk variants of CRC. | 0.011129117 | 2015 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 12839942 | 3576 | CXCL8 | umls:C1527249 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.025722303 | 2003 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 20596649 | 54512 | EXOSC4 | umls:C0009402 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.000814326 | 2010 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 12839942 | 3576 | CXCL8 | umls:C0009402 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.006786047 | 2003 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16965392 | 5468 | PPARG | umls:C1527249 | BeFree | Meat, milk, saturated fatty acids, the Pro12Ala and C161T polymorphisms of the PPARgamma gene and colorectal cancer risk in Japanese. | 0.038990617 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 15860437 | 5468 | PPARG | umls:C1527249 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.038990617 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16937502 | 5468 | PPARG | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 15860437 | 54512 | EXOSC4 | umls:C1527249 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.000814326 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1801394 | 20726305 | 4552 | MTRR | umls:C0009402 | BeFree | Study results do not demonstrate an association between A66G MTRR polymorphism and CRC or BC in Romanian patients. | 0.002442977 | 2010 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 102724560 | LOC102724560 | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.001085767 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 26214647 | 4552 | MTRR | umls:C1527249 | BeFree | A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. | 0.035581425 | 2015 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 20726305 | 4552 | MTRR | umls:C1527249 | BeFree | Study results do not demonstrate an association between A66G MTRR polymorphism and CRC or BC in Romanian patients. | 0.035581425 | 2010 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 26214647 | 4552 | MTRR | umls:C0009402 | BeFree | A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. | 0.002442977 | 2015 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 4524 | MTHFR | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.026329862 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 875 | CBS | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.000814326 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 4552 | MTRR | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.035581425 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 4552 | MTRR | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.002442977 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 875 | CBS | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.012920927 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 102724560 | LOC102724560 | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.000814326 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 12020105 | 4524 | MTHFR | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.106872745 | 2002 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1802073 | 20403915 | 6424 | SFRP4 | umls:C1527249 | BeFree | In addition, homozygosity for the minor allele of SFRP4 P320T was significantly associated with rectal cancer risk (OR = 1.37, 95% CI, 1.06-1.79, P = 0.02) and early-stage CRC (OR = 1.33, 95% CI, 1.05-1.69, P = 0.02). | 0.002909916 | 2010 | SFRP4 | 7 | 37907562 | G | T |
| rs1802073 | 20403915 | 6424 | SFRP4 | umls:C0009402 | BeFree | In addition, homozygosity for the minor allele of SFRP4 P320T was significantly associated with rectal cancer risk (OR = 1.37, 95% CI, 1.06-1.79, P = 0.02) and early-stage CRC (OR = 1.33, 95% CI, 1.05-1.69, P = 0.02). | 0.000814326 | 2010 | SFRP4 | 7 | 37907562 | G | T |
| rs1805077 | 20363991 | 5063 | PAK3 | umls:C1527249 | BeFree | Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and prognosis. | 0.001357209 | 2010 | PAK3 | X | 111123196 | C | A |
| rs1805077 | 20363991 | 5063 | PAK3 | umls:C0009402 | BeFree | Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and prognosis. | 0.001357209 | 2010 | PAK3 | X | 111123196 | C | A |
| rs1805087 | 22719222 | 4548 | MTR | umls:C1527249 | BeFree | No significant association was found between MTHFR A1298C and MTR A2756G polymorphisms and the risk of CRC. | 0.042411079 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 22719222 | 4548 | MTR | umls:C0009402 | BeFree | No significant association was found between MTHFR A1298C and MTR A2756G polymorphisms and the risk of CRC. | 0.002171535 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805192 | 12839942 | 3576 | CXCL8 | umls:C0009402 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.006786047 | 2003 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 12839942 | 3576 | CXCL8 | umls:C1527249 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.025722303 | 2003 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 15860437 | 54512 | EXOSC4 | umls:C1527249 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.000814326 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16937502 | 5468 | PPARG | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16965392 | 5468 | PPARG | umls:C0009402 | BeFree | Meat, milk, saturated fatty acids, the Pro12Ala and C161T polymorphisms of the PPARgamma gene and colorectal cancer risk in Japanese. | 0.011129117 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 20596649 | 54512 | EXOSC4 | umls:C1527249 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.000814326 | 2010 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16937502 | 3576 | CXCL8 | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.025722303 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16937502 | 3576 | CXCL8 | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.006786047 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 20596649 | 5468 | PPARG | umls:C1527249 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.038990617 | 2010 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16937502 | 7124 | TNF | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.036623585 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16489531 | 54512 | EXOSC4 | umls:C1527249 | BeFree | In this study, we evaluated the association between colorectal cancer and specific tumor mutations and the Pro12Ala (P12A) PPARgamma polymorphism. | 0.000814326 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 15860437 | 5468 | PPARG | umls:C0009402 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.011129117 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 12839942 | 7124 | TNF | umls:C1527249 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.036623585 | 2003 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16937502 | 7124 | TNF | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 20596649 | 5468 | PPARG | umls:C0009402 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.011129117 | 2010 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16965392 | 5468 | PPARG | umls:C1527249 | BeFree | Meat, milk, saturated fatty acids, the Pro12Ala and C161T polymorphisms of the PPARgamma gene and colorectal cancer risk in Japanese. | 0.038990617 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 12839942 | 7124 | TNF | umls:C0009402 | BeFree | We have studied the association between single nucleotide polymorphisms in the interleukin (IL)-6 (-174 G>C), IL8 (-251T>A), tumor necrosis factor alpha (-308G>A), and PPARG (Pro12Ala) genes and the risk of CRC in a group of 377 cases and 326 controls from Barcelona, Spain. | 0.011129117 | 2003 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16108832 | 5468 | PPARG | umls:C0009402 | BeFree | Influence of the C161T but not Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma on colorectal cancer in an Indian population. | 0.011129117 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16108832 | 5468 | PPARG | umls:C1527249 | BeFree | Influence of the C161T but not Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma on colorectal cancer in an Indian population. | 0.038990617 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 15860437 | 5468 | PPARG | umls:C1527249 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.038990617 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16937502 | 5468 | PPARG | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.038990617 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 20596649 | 54512 | EXOSC4 | umls:C0009402 | BeFree | This meta-analysis suggests that the Ala allele of the PPARgamma P12A polymorphism might be a protective factor for colorectal cancer, but a risk factor for gastric cancer. | 0.000814326 | 2010 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16489531 | 54512 | EXOSC4 | umls:C0009402 | BeFree | In this study, we evaluated the association between colorectal cancer and specific tumor mutations and the Pro12Ala (P12A) PPARgamma polymorphism. | 0.000814326 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 15860437 | 54512 | EXOSC4 | umls:C0009402 | BeFree | In this study we evaluated the association between the Pro12Ala (P12A) PPARgamma polymorphism and body mass index (BMI), waist-to-hip ratio (WHR), physical activity level, and energy intake and risk of colorectal cancer using data from a population-based, case-control study of colon cancer (1,577 cases and 1,971 controls) and rectal cancer (794 cases and 1,001 controls). | 0.000814326 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs1862513 | 19273568 | 56729 | RETN | umls:C1527249 | BeFree | A trend to associate between the RETN SNP rs1862513 (C-420G) and CRC risk was observed (per allele OR 1.18, 95% confidence interval (0.99-1.40). | 0.00554839 | 2009 | RETN | 19 | 7668907 | C | G |
| rs1862513 | 19273568 | 56729 | RETN | umls:C0009402 | BeFree | A trend to associate between the RETN SNP rs1862513 (C-420G) and CRC risk was observed (per allele OR 1.18, 95% confidence interval (0.99-1.40). | 0.000814326 | 2009 | RETN | 19 | 7668907 | C | G |
| rs1919314 | 23677573 | 5460 | POU5F1 | umls:C0009402 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.001900093 | 2013 | HDAC9 | 7 | 18100738 | A | T |
| rs1919314 | 23677573 | 9734 | HDAC9 | umls:C0009402 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.001628651 | 2013 | HDAC9 | 7 | 18100738 | A | T |
| rs1919314 | 23677573 | 5460 | POU5F1 | umls:C1527249 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.001900093 | 2013 | HDAC9 | 7 | 18100738 | A | T |
| rs1919314 | 23677573 | 9734 | HDAC9 | umls:C1527249 | BeFree | No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the most significantly associated SNPs were either previously associated with colorectal cancer in GWAS, such as rs10505477 in the gene POU5F1 [odds ratio (OR) = 0.87; 95% confidence interval (CI) 0.81-0.94; P = 4.4 × 10(-4)), or have been biologically linked to benign growths in other tissues, such as rs1919314 in the gene histone deacetylase 9 (OR = 1.32; 95% CI, 1.18-1.47; P = 1.1 × 10(-6)). | 0.003995683 | 2013 | HDAC9 | 7 | 18100738 | A | T |
| rs1950902 | 26108676 | 7298 | TYMS | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.111758699 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 4522 | MTHFD1 | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000814326 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 4552 | MTRR | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.035581425 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 7799 | PRDM2 | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.003724241 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 7799 | PRDM2 | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.001085767 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 4522 | MTHFD1 | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.015016517 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 5447 | POR | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000271442 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 4552 | MTRR | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.002442977 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 7298 | TYMS | umls:C0009402 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.032573025 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1950902 | 26108676 | 5447 | POR | umls:C1527249 | BeFree | Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). | 0.000271442 | 2015 | MTHFD1 | 14 | 64415662 | A | G |
| rs1957636 | 21655089 | 652 | BMP4 | umls:C0009402 | BeFree | We identified new, independent CRC predisposition SNPs close to BMP4 (rs1957636, P = 3.93×10(-10)) and BMP2 (rs4813802, P = 4.65×10(-11)). | 0.003800186 | 2011 | LOC105370507 | 14 | 54093300 | T | C |
| rs1957636 | 21655089 | 652 | BMP4 | umls:C1527249 | BeFree | We identified new, independent CRC predisposition SNPs close to BMP4 (rs1957636, P = 3.93×10(-10)) and BMP2 (rs4813802, P = 4.65×10(-11)). | 0.013268314 | 2011 | LOC105370507 | 14 | 54093300 | T | C |
| rs1979277 | 25194438 | 6470 | SHMT1 | umls:C0009402 | BeFree | Otherwise, SHMT1 C1420T polymorphism may have a protective effect on colorectal cancer and Asian population. | 0.001085767 | 2014 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 25194438 | 6470 | SHMT1 | umls:C1527249 | BeFree | Otherwise, SHMT1 C1420T polymorphism may have a protective effect on colorectal cancer and Asian population. | 0.010553895 | 2014 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 23401104 | 6470 | SHMT1 | umls:C1527249 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.010553895 | 2013 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 23401104 | 7298 | TYMS | umls:C0009402 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.032573025 | 2013 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 23322534 | 6470 | SHMT1 | umls:C1527249 | BeFree | A meta-analysis of the C1420T polymorphism in cytosolic serine hydroxymethyltransferase (SHMT1) among Caucasian colorectal cancer populations. | 0.010553895 | 2013 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 23401104 | 6470 | SHMT1 | umls:C0009402 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.001085767 | 2013 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 23322534 | 6470 | SHMT1 | umls:C0009402 | BeFree | A meta-analysis of the C1420T polymorphism in cytosolic serine hydroxymethyltransferase (SHMT1) among Caucasian colorectal cancer populations. | 0.001085767 | 2013 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 23401104 | 7298 | TYMS | umls:C1527249 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.111758699 | 2013 | SHMT1 | 17 | 18328782 | G | A |
| rs1989969 | 24075799 | 1045 | CDX2 | umls:C1527249 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.013496149 | 2013 | VDR | 12 | 47884227 | A | T,G,C |
| rs1989969 | 24075799 | 1045 | CDX2 | umls:C0009402 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.012214884 | 2013 | VDR | 12 | 47884227 | A | T,G,C |
| rs2020872 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs2020872 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | MLH1;EPM2AIP1 | 3 | 36993641 | A | G |
| rs202150291 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs202150291 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | LIPC | 15 | 58560941 | C | T |
| rs2031920 | 23595220 | 1571 | CYP2E1 | umls:C1527249 | BeFree | Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic review and meta-analysis. | 0.042487023 | 2013 | CYP2E1 | 10 | 133526341 | C | T |
| rs2031920 | 23595220 | 1571 | CYP2E1 | umls:C0009402 | BeFree | Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic review and meta-analysis. | 0.004071628 | 2013 | CYP2E1 | 10 | 133526341 | C | T |
| rs20417 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | PTGS2;PACERR | 1 | 186681189 | C | G |
| rs20417 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | PTGS2;PACERR | 1 | 186681189 | C | G |
| rs20541 | 22419714 | 3596 | IL13 | umls:C0009402 | BeFree | Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(trend) = 0.02), whereas patients harboring the IL13_rs20541_T allele had a reduced risk (P(trend) = 0.02). | 0.001085767 | 2012 | IL13 | 5 | 132660272 | A | G |
| rs20541 | 22419714 | 3596 | IL13 | umls:C1527249 | BeFree | Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(trend) = 0.02), whereas patients harboring the IL13_rs20541_T allele had a reduced risk (P(trend) = 0.02). | 0.001085767 | 2012 | IL13 | 5 | 132660272 | A | G |
| rs2066844 | 17351900 | 64127 | NOD2 | umls:C0009402 | BeFree | No evidence for association of NOD2 R702W and G908R with colorectal cancer. | 0.004614512 | 2007 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15785318 | 64127 | NOD2 | umls:C1527249 | BeFree | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with chronic inflammatory disease such as Crohn's disease, the 3020insC also with human malignancy colorectal cancer. | 0.025646358 | 2005 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 17351900 | 64127 | NOD2 | umls:C1527249 | BeFree | No evidence for association of NOD2 R702W and G908R with colorectal cancer. | 0.025646358 | 2007 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15785318 | 64127 | NOD2 | umls:C0009402 | BeFree | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with chronic inflammatory disease such as Crohn's disease, the 3020insC also with human malignancy colorectal cancer. | 0.004614512 | 2005 | NOD2 | 16 | 50712015 | C | T |
| rs2066845 | 15785318 | 64127 | NOD2 | umls:C0009402 | BeFree | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with chronic inflammatory disease such as Crohn's disease, the 3020insC also with human malignancy colorectal cancer. | 0.004614512 | 2005 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 17351900 | 64127 | NOD2 | umls:C0009402 | BeFree | No evidence for association of NOD2 R702W and G908R with colorectal cancer. | 0.004614512 | 2007 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 17351900 | 64127 | NOD2 | umls:C1527249 | BeFree | No evidence for association of NOD2 R702W and G908R with colorectal cancer. | 0.025646358 | 2007 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 15785318 | 64127 | NOD2 | umls:C1527249 | BeFree | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with chronic inflammatory disease such as Crohn's disease, the 3020insC also with human malignancy colorectal cancer. | 0.025646358 | 2005 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066865 | 21422408 | 5054 | SERPINE1 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.010901282 | 2011 | FGG | 4 | 154604124 | G | A |
| rs2066865 | 21422408 | 4524 | MTHFR | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.106872745 | 2011 | FGG | 4 | 154604124 | G | A |
| rs2066865 | 21422408 | 2147 | F2 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.000542884 | 2011 | FGG | 4 | 154604124 | G | A |
| rs2066865 | 21422408 | 4524 | MTHFR | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.026329862 | 2011 | FGG | 4 | 154604124 | G | A |
| rs2066865 | 21422408 | 5054 | SERPINE1 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.004071628 | 2011 | FGG | 4 | 154604124 | G | A |
| rs2066865 | 21422408 | 2147 | F2 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.005276948 | 2011 | FGG | 4 | 154604124 | G | A |
| rs2070600 | 24248547 | 177 | AGER | umls:C1527249 | BeFree | In conclusion, the RAGE gene Gly82Ser polymorphism may confer not only an increased risk of CRC but also an increased invasion of CRC in the Chinese population. | 0.000271442 | 2013 | AGER | 6 | 32183666 | C | T |
| rs2076485 | 21351261 | 10537 | UBD | umls:C0009402 | BeFree | Carriage of the minor allele of UBD I68T was significantly associated with advanced stages of CRC and with CRC below 65 years of age (OR, 1.23; 95% CI, 1.04-1.45; p = 0.02 and OR, 1.32; 95% CI, 1.05-1.67; p = 0.02, respectively). | 0.000271442 | 2010 | UBD | 6 | 29556175 | A | G,C |
| rs2076485 | 21351261 | 10537 | UBD | umls:C1527249 | BeFree | Carriage of the minor allele of UBD I68T was significantly associated with advanced stages of CRC and with CRC below 65 years of age (OR, 1.23; 95% CI, 1.04-1.45; p = 0.02 and OR, 1.32; 95% CI, 1.05-1.67; p = 0.02, respectively). | 0.000271442 | 2010 | UBD | 6 | 29556175 | A | G,C |
| rs2167270 | 24845032 | 3952 | LEP | umls:C1527249 | BeFree | These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. | 0.008805692 | 2014 | LEP | 7 | 128241296 | G | A |
| rs2167270 | 24845032 | 3952 | LEP | umls:C0009402 | BeFree | These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. | 0.004071628 | 2014 | LEP | 7 | 128241296 | G | A |
| rs2171492 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2171492 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | CPA4 | 7 | 130310900 | G | T |
| rs2227935 | 19945966 | 641 | BLM | umls:C0009402 | BeFree | Although none of them showed a significant association with CRC, the association of BLM P868L with rectal cancer risk requires further investigation. | 0.000814326 | 2010 | BLM | 15 | 90782869 | C | G,T |
| rs2227935 | 19945966 | 641 | BLM | umls:C1527249 | BeFree | Although none of them showed a significant association with CRC, the association of BLM P868L with rectal cancer risk requires further investigation. | 0.00554839 | 2010 | BLM | 15 | 90782869 | C | G,T |
| rs2227983 | 21896992 | 1956 | EGFR | umls:C1527249 | BeFree | The EGFR R521K polymorphism influences the risk to develop colorectal cancer. | 0.108132349 | 2010 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2227983 | 21896992 | 1956 | EGFR | umls:C0009402 | BeFree | The EGFR R521K polymorphism influences the risk to develop colorectal cancer. | 0.08 | 2010 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2228000 | 25355595 | 7508 | XPC | umls:C0009402 | BeFree | Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased risk of CRC. | 0.003257302 | 2014 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 24385304 | 7508 | XPC | umls:C1527249 | BeFree | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of case-control studies. | 0.007448483 | 2013 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 24385304 | 7508 | XPC | umls:C0009402 | BeFree | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of case-control studies. | 0.003257302 | 2013 | XPC | 3 | 14158387 | G | A |
| rs2228000 | 25355595 | 7508 | XPC | umls:C1527249 | BeFree | Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased risk of CRC. | 0.007448483 | 2014 | XPC | 3 | 14158387 | G | A |
| rs2228001 | 24947936 | 7508 | XPC | umls:C1527249 | BeFree | XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evidence from a meta-analysis. | 0.007448483 | 2014 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 17363013 | 7507 | XPA | umls:C0009402 | BeFree | We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn, and interactions between the polymorphisms and the environmental factors: smoking intensity, intake of alcohol, red meat, processed meat, fish and poultry, fruits and vegetables and dietary fibres, in relation to development of colorectal cancer in a study population of 405 colorectal cancer cases and a comparison group of 810 persons, nested within the Danish prospective cohort, Diet, Cancer and Health, of 57053 cohort members. | 0.000814326 | 2007 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 17363013 | 7508 | XPC | umls:C0009402 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.003257302 | 2007 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 17363013 | 7507 | XPA | umls:C1527249 | BeFree | We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn, and interactions between the polymorphisms and the environmental factors: smoking intensity, intake of alcohol, red meat, processed meat, fish and poultry, fruits and vegetables and dietary fibres, in relation to development of colorectal cancer in a study population of 405 colorectal cancer cases and a comparison group of 810 persons, nested within the Danish prospective cohort, Diet, Cancer and Health, of 57053 cohort members. | 0.007915422 | 2007 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 24385304 | 7508 | XPC | umls:C0009402 | BeFree | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of case-control studies. | 0.003257302 | 2013 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 17363013 | 7508 | XPC | umls:C1527249 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.007448483 | 2007 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 17363013 | 2068 | ERCC2 | umls:C0009402 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.010434343 | 2007 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 17363013 | 2068 | ERCC2 | umls:C1527249 | BeFree | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. | 0.057503541 | 2007 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 20649433 | 7508 | XPC | umls:C0009402 | BeFree | The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms and the susceptibility to colorectal carcinoma with or without oxidative stress were evaluated. | 0.003257302 | 2010 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 24385304 | 7508 | XPC | umls:C1527249 | BeFree | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of case-control studies. | 0.007448483 | 2013 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 24947936 | 7508 | XPC | umls:C0009402 | BeFree | XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evidence from a meta-analysis. | 0.003257302 | 2014 | XPC | 3 | 14145949 | G | T |
| rs2228262 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228262 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | THBS1 | 15 | 39589977 | A | G |
| rs2228570 | 24075799 | 1045 | CDX2 | umls:C1527249 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.013496149 | 2013 | VDR | 12 | 47879112 | A | T,G,C |
| rs2228570 | 24075799 | 1045 | CDX2 | umls:C0009402 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.012214884 | 2013 | VDR | 12 | 47879112 | A | T,G,C |
| rs2229080 | 15646429 | 1630 | DCC | umls:C0009402 | BeFree | No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer. | 0.01302921 | 2004 | DCC | 18 | 52906232 | C | G |
| rs2229080 | 15646429 | 1630 | DCC | umls:C1527249 | BeFree | No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer. | 0.014039032 | 2004 | DCC | 18 | 52906232 | C | G |
| rs2229995 | 15824157 | 324 | APC | umls:C1527249 | BeFree | APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. | 0.24 | 2005 | APC | 5 | 112843098 | G | A |
| rs2229995 | 15824157 | 324 | APC | umls:C0009402 | BeFree | APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. | 0.075732282 | 2005 | APC | 5 | 112843098 | G | A |
| rs2234922 | 22415791 | 2052 | EPHX1 | umls:C0009402 | BeFree | We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms and assessed effect modifications of cigarette smoking and the other covariates. | 0.002171535 | 2013 | EPHX1 | 1 | 225838705 | A | G,T |
| rs2234922 | 22415791 | 2052 | EPHX1 | umls:C1527249 | BeFree | We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms and assessed effect modifications of cigarette smoking and the other covariates. | 0.032671509 | 2013 | EPHX1 | 1 | 225838705 | A | G,T |
| rs2236225 | 15122597 | 4522 | MTHFD1 | umls:C1527249 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.015016517 | 2004 | MTHFD1 | 14 | 64442127 | G | A |
| rs2236225 | 15122597 | 2346 | FOLH1 | umls:C1527249 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.008186863 | 2004 | MTHFD1 | 14 | 64442127 | G | A |
| rs2236225 | 15122597 | 4522 | MTHFD1 | umls:C0009402 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.000814326 | 2004 | MTHFD1 | 14 | 64442127 | G | A |
| rs2236225 | 15122597 | 2346 | FOLH1 | umls:C0009402 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.001085767 | 2004 | MTHFD1 | 14 | 64442127 | G | A |
| rs2240308 | 16820935 | 8313 | AXIN2 | umls:C1527249 | BeFree | These results suggest that the AXIN2 Pro50Ser SNP is associated with development of lung cancer as a protective SNP, while an association between the AXIN2 SNP and risk of colorectal cancer and of head and neck cancer was not observed. | 0.005081451 | 2006 | AXIN2 | 17 | 65558473 | G | A |
| rs2240308 | 16820935 | 8313 | AXIN2 | umls:C0009402 | BeFree | These results suggest that the AXIN2 Pro50Ser SNP is associated with development of lung cancer as a protective SNP, while an association between the AXIN2 SNP and risk of colorectal cancer and of head and neck cancer was not observed. | 0.002985861 | 2006 | AXIN2 | 17 | 65558473 | G | A |
| rs2241766 | 25489716 | 9370 | ADIPOQ | umls:C1527249 | BeFree | To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs1501299 polymorphisms and the risk of colorectal cancer, and to analyze the role of the interaction between these two loci and environmental factors in colorectal cancer pathogenesis. | 0.012996872 | 2015 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2241766 | 25489716 | 9370 | ADIPOQ | umls:C0009402 | BeFree | To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs1501299 polymorphisms and the risk of colorectal cancer, and to analyze the role of the interaction between these two loci and environmental factors in colorectal cancer pathogenesis. | 0.003528744 | 2015 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2273535 | 17003782 | 6790 | AURKA | umls:C1527249 | BeFree | Case-control, kin-cohort and meta-analyses provide no support for STK15 F31I as a low penetrance colorectal cancer allele. | 0.011639663 | 2006 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 17003782 | 2011 | MARK2 | umls:C1527249 | BeFree | Recently, homozygosity for T91A single-nucleotide polymorphism (SNP) in the serine/threonine kinase (STK15) gene, which generates the substitution F31I has been proposed to increase the risk of a number of tumours including colorectal cancer (CRC). | 0.001628651 | 2006 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 17003782 | 6790 | AURKA | umls:C0009402 | BeFree | Case-control, kin-cohort and meta-analyses provide no support for STK15 F31I as a low penetrance colorectal cancer allele. | 0.001628651 | 2006 | AURKA | 20 | 56386485 | A | T |
| rs2273535 | 17003782 | 2011 | MARK2 | umls:C0009402 | BeFree | Recently, homozygosity for T91A single-nucleotide polymorphism (SNP) in the serine/threonine kinase (STK15) gene, which generates the substitution F31I has been proposed to increase the risk of a number of tumours including colorectal cancer (CRC). | 0.001900093 | 2006 | AURKA | 20 | 56386485 | A | T |
| rs2273697 | 23232902 | 1244 | ABCC2 | umls:C1527249 | BeFree | The correlation of G1249A ABCC2 polymorphism with the development of colorectal cancer (CRC) and poor prognosis was evaluated in patients who were treated with fluorouracil/-leucovorin (FL) plus oxaliplatin (FOLFOX-4). | 0.008186863 | 2013 | ABCC2 | 10 | 99804058 | G | A |
| rs2273697 | 23232902 | 1244 | ABCC2 | umls:C0009402 | BeFree | The correlation of G1249A ABCC2 polymorphism with the development of colorectal cancer (CRC) and poor prognosis was evaluated in patients who were treated with fluorouracil/-leucovorin (FL) plus oxaliplatin (FOLFOX-4). | 0.001357209 | 2013 | ABCC2 | 10 | 99804058 | G | A |
| rs2275913 | 24446182 | 6647 | SOD1 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001357209 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3586 | IL10 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005971721 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 7099 | TLR4 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.008262808 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 6647 | SOD1 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001628651 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3605 | IL17A | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005700279 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3553 | IL1B | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.017459494 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3553 | IL1B | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003257302 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3605 | IL17A | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005428837 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 7099 | TLR4 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.00434307 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3586 | IL10 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.012801375 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2276466 | 24861646 | 2072 | ERCC4 | umls:C0009402 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.000814326 | 2014 | ERCC4 | 16 | 13949318 | C | G |
| rs2276466 | 24861646 | 2072 | ERCC4 | umls:C1527249 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.00554839 | 2014 | ERCC4 | 16 | 13949318 | C | G |
| rs2295080 | 25776475 | 2475 | MTOR | umls:C0009402 | BeFree | Functional promoter rs2295080 T>G variant in MTOR gene is associated with risk of colorectal cancer in a Chinese population. | 0.005157396 | 2014 | MTOR | 1 | 11262571 | G | T |
| rs2295080 | 25776475 | 2475 | MTOR | umls:C1527249 | BeFree | Functional promoter rs2295080 T>G variant in MTOR gene is associated with risk of colorectal cancer in a Chinese population. | 0.004614512 | 2014 | MTOR | 1 | 11262571 | G | T |
| rs2298881 | 24861646 | 2072 | ERCC4 | umls:C0009402 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.000814326 | 2014 | ERCC1 | 19 | 45423658 | C | A |
| rs2298881 | 24861646 | 2072 | ERCC4 | umls:C1527249 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.00554839 | 2014 | ERCC1 | 19 | 45423658 | C | A |
| rs2308237 | 18268114 | 4255 | MGMT | umls:C1527249 | BeFree | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003). | 0.033322675 | 2008 | NA | 3 | 191728221 | - | TA |
| rs2308237 | 18268114 | 4255 | MGMT | umls:C0009402 | BeFree | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003). | 0.014386419 | 2008 | NA | 3 | 191728221 | - | TA |
| rs2308318 | 20192566 | 4255 | MGMT | umls:C0009402 | BeFree | However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI). | 0.014386419 | 2009 | MGMT;LOC105378559 | 10 | 129766851 | G | A |
| rs2308318 | 20192566 | 4255 | MGMT | umls:C1527249 | BeFree | However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI). | 0.033322675 | 2009 | MGMT;LOC105378559 | 10 | 129766851 | G | A |
| rs2308321 | 16633920 | 2099 | ESR1 | umls:C1527249 | BeFree | Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. | 0.012182547 | 2006 | MGMT;LOC105378559 | 10 | 129766800 | A | G |
| rs2308321 | 16633920 | 4255 | MGMT | umls:C0009402 | BeFree | O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States). | 0.014386419 | 2006 | MGMT;LOC105378559 | 10 | 129766800 | A | G |
| rs2308321 | 18268114 | 4255 | MGMT | umls:C1527249 | BeFree | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003). | 0.033322675 | 2008 | MGMT;LOC105378559 | 10 | 129766800 | A | G |
| rs2308321 | 16633920 | 2099 | ESR1 | umls:C0009402 | BeFree | Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. | 0.003800186 | 2006 | MGMT;LOC105378559 | 10 | 129766800 | A | G |
| rs2308321 | 16633920 | 4255 | MGMT | umls:C1527249 | BeFree | O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States). | 0.033322675 | 2006 | MGMT;LOC105378559 | 10 | 129766800 | A | G |
| rs2308321 | 18268114 | 4255 | MGMT | umls:C0009402 | BeFree | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003). | 0.014386419 | 2008 | MGMT;LOC105378559 | 10 | 129766800 | A | G |
| rs2308327 | 18268114 | 4255 | MGMT | umls:C0009402 | BeFree | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003). | 0.014386419 | 2008 | MGMT;LOC105378559 | 10 | 129766906 | A | G |
| rs2308327 | 18268114 | 4255 | MGMT | umls:C1527249 | BeFree | Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003). | 0.033322675 | 2008 | MGMT;LOC105378559 | 10 | 129766906 | A | G |
| rs2337107 | 24969865 | 4092 | SMAD7 | umls:C0009402 | BeFree | Lack of influence of the SMAD7 gene rs2337107 polymorphism on risk of colorectal cancer in an Iranian population. | 0.009229024 | 2015 | SMAD7 | 18 | 48932953 | C | T |
| rs2337107 | 24969865 | 4092 | SMAD7 | umls:C1527249 | BeFree | Lack of influence of the SMAD7 gene rs2337107 polymorphism on risk of colorectal cancer in an Iranian population. | 0.162367471 | 2015 | SMAD7 | 18 | 48932953 | C | T |
| rs240780 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs240780 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | ASCC3 | 6 | 100516271 | G | C |
| rs241419 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs241419 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | PSMB9 | 6 | 32856171 | G | C,A |
| rs2423279 | 24836286 | 171472 | SRSF10P2 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | NA | 20 | 7831703 | T | C |
| rs2423279 | 23263487 | 171472 | SRSF10P2 | umls:C1527249 | GWASCAT | Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. | 0.12 | 2013 | NA | 20 | 7831703 | T | C |
| rs2424913 | 20960050 | 1789 | DNMT3B | umls:C0009402 | BeFree | Among 609 CRC cases and 1,663 subcohort members of the Netherlands Cohort Study on diet and cancer (n = 120,852), we estimated CRC risk according to methyl donor intake across genotypes of folate metabolizing enzymes and methyltransferases.Although diet-gene interactions were not statistically significant, methionine intake was inversely associated with CRC among subjects having both common rs2424913 and rs406193 DNMT3B C > T genotypes (highest versus lowest tertile: RR = 0.44; p (trend) = 0.05). | 0.003257302 | 2011 | DNMT3B | 20 | 32786453 | C | T |
| rs2424913 | 20960050 | 1789 | DNMT3B | umls:C1527249 | BeFree | Among 609 CRC cases and 1,663 subcohort members of the Netherlands Cohort Study on diet and cancer (n = 120,852), we estimated CRC risk according to methyl donor intake across genotypes of folate metabolizing enzymes and methyltransferases.Although diet-gene interactions were not statistically significant, methionine intake was inversely associated with CRC among subjects having both common rs2424913 and rs406193 DNMT3B C > T genotypes (highest versus lowest tertile: RR = 0.44; p (trend) = 0.05). | 0.01272543 | 2011 | DNMT3B | 20 | 32786453 | C | T |
| rs2427308 | 24737748 | 81928 | CABLES2 | umls:C1527249 | GWASCAT | Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. | 0.12 | 2015 | CABLES2 | 20 | 62394395 | C | T |
| rs25487 | 15914278 | 7515 | XRCC1 | umls:C1527249 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.062389495 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23188703 | 7515 | XRCC1 | umls:C1527249 | BeFree | The meta-analysis suggests that the XRCC1 Arg399Gln polymorphism is associated with increased risk of CRC. | 0.062389495 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21971103 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.062389495 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15914278 | 7517 | XRCC3 | umls:C1527249 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.028556273 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24157118 | 7515 | XRCC1 | umls:C0009402 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.012681823 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15914278 | 2068 | ERCC2 | umls:C1527249 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.057503541 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18806752 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.062389495 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25921133 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association of XRCC1 Arg399Gln Polymorphism with Colorectal Cancer Risk: A HuGE Meta Analysis of 35 Studies. | 0.012681823 | 2016 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18806752 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.012681823 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24157118 | 7515 | XRCC1 | umls:C1527249 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.062389495 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23317245 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.012681823 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25024628 | 7515 | XRCC1 | umls:C0009402 | BeFree | APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC1 Arg399Gln and CRC risk in the Chinese Han population. | 0.012681823 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24224851 | 7515 | XRCC1 | umls:C1527249 | BeFree | However, we did not observe a significant association between XRCC1 Arg399Gln polymorphism and hazard for PFS and OS for gastric and colorectal cancer patients in all tested models. | 0.062389495 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15914278 | 7515 | XRCC1 | umls:C0009402 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.012681823 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15914278 | 2068 | ERCC2 | umls:C0009402 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.010434343 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23317245 | 2068 | ERCC2 | umls:C0009402 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.010434343 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24377605 | 7515 | XRCC1 | umls:C1527249 | BeFree | The XRCC1 Arg399Gln gene polymorphism and risk of colorectal cancer: a study in Kashmir. | 0.062389495 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21971103 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.012681823 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24224851 | 7515 | XRCC1 | umls:C0009402 | BeFree | However, we did not observe a significant association between XRCC1 Arg399Gln polymorphism and hazard for PFS and OS for gastric and colorectal cancer patients in all tested models. | 0.012681823 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21971103 | 7157 | TP53 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.16 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25582318 | 7515 | XRCC1 | umls:C1527249 | BeFree | XRCC1 R399Q polymorphism and colorectal cancer risk in the Chinese Han population: a meta-analysis. | 0.062389495 | 2015 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15914278 | 7517 | XRCC3 | umls:C0009402 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.004885954 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23712778 | 7515 | XRCC1 | umls:C1527249 | BeFree | XRCC1 Arg399Gln polymorphism contributes to increased risk of colorectal cancer in Chinese population. | 0.062389495 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21612998 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.062389495 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21612998 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.012681823 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25582318 | 7515 | XRCC1 | umls:C0009402 | BeFree | XRCC1 R399Q polymorphism and colorectal cancer risk in the Chinese Han population: a meta-analysis. | 0.012681823 | 2015 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21971103 | 7157 | TP53 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.084734064 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23317245 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.062389495 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23712778 | 7515 | XRCC1 | umls:C0009402 | BeFree | XRCC1 Arg399Gln polymorphism contributes to increased risk of colorectal cancer in Chinese population. | 0.012681823 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25024628 | 7515 | XRCC1 | umls:C1527249 | BeFree | APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC1 Arg399Gln and CRC risk in the Chinese Han population. | 0.062389495 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24377605 | 7515 | XRCC1 | umls:C0009402 | BeFree | The XRCC1 Arg399Gln gene polymorphism and risk of colorectal cancer: a study in Kashmir. | 0.012681823 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23188703 | 7515 | XRCC1 | umls:C0009402 | BeFree | The meta-analysis suggests that the XRCC1 Arg399Gln polymorphism is associated with increased risk of CRC. | 0.012681823 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24157118 | 2068 | ERCC2 | umls:C1527249 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.057503541 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24157118 | 2068 | ERCC2 | umls:C0009402 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.010434343 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25921133 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association of XRCC1 Arg399Gln Polymorphism with Colorectal Cancer Risk: A HuGE Meta Analysis of 35 Studies. | 0.062389495 | 2016 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23317245 | 2068 | ERCC2 | umls:C1527249 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.057503541 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25489 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | XRCC1 | 19 | 43552260 | C | T,G |
| rs2665802 | 19064544 | 2688 | GH1 | umls:C1527249 | BeFree | A common polymorphism in the GH1 gene, rs2665802, was previously shown to be associated with lower IGF-I levels and decreased colorectal cancer (CRC) risk. | 0.011368221 | 2008 | GH1 | 17 | 63917670 | A | T |
| rs2665802 | 19064544 | 2688 | GH1 | umls:C0009402 | BeFree | A common polymorphism in the GH1 gene, rs2665802, was previously shown to be associated with lower IGF-I levels and decreased colorectal cancer (CRC) risk. | 0.002171535 | 2008 | GH1 | 17 | 63917670 | A | T |
| rs266729 | 18827209 | 9370 | ADIPOQ | umls:C0009402 | BeFree | The SNP rs266729, which tags the 5' flanking region of the ADIPOQ gene, is associated with decreased colorectal cancer risk. | 0.003528744 | 2008 | ADIPOQ | 3 | 186841685 | C | G |
| rs266729 | 21749709 | 51094 | ADIPOR1 | umls:C0009402 | BeFree | We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. | 0.002442977 | 2011 | ADIPOQ | 3 | 186841685 | C | G |
| rs266729 | 18827209 | 9370 | ADIPOQ | umls:C1527249 | BeFree | The SNP rs266729, which tags the 5' flanking region of the ADIPOQ gene, is associated with decreased colorectal cancer risk. | 0.012996872 | 2008 | ADIPOQ | 3 | 186841685 | C | G |
| rs266729 | 21749709 | 51094 | ADIPOR1 | umls:C1527249 | BeFree | We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. | 0.004810009 | 2011 | ADIPOQ | 3 | 186841685 | C | G |
| rs2736100 | 22878375 | 81037 | CLPTM1L | umls:C0009402 | BeFree | The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk. | 0.000271442 | 2012 | TERT | 5 | 1286401 | C | A |
| rs2736100 | 22878375 | 7015 | TERT | umls:C0009402 | BeFree | The TERT variant rs2736100 is associated with colorectal cancer risk. | 0.004885954 | 2012 | TERT | 5 | 1286401 | C | A |
| rs2736100 | 22878375 | 7015 | TERT | umls:C1527249 | BeFree | The TERT variant rs2736100 is associated with colorectal cancer risk. | 0.003257302 | 2012 | TERT | 5 | 1286401 | C | A |
| rs2736100 | 22878375 | 81037 | CLPTM1L | umls:C1527249 | BeFree | The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk. | 0.000271442 | 2012 | TERT | 5 | 1286401 | C | A |
| rs2737 | 21394385 | 56955 | MEPE | umls:C0009402 | BeFree | The frequency of the C/C rs2737 genotype was much lower in patients who developed colorectal cancer below the age of 45 years than in individuals over age 45 years (10.8% versus 26.6%, P = 0.039). | 0.003528744 | 2011 | CDK5RAP3 | 17 | 47981705 | T | C |
| rs2737 | 21394385 | 56955 | MEPE | umls:C1527249 | BeFree | The frequency of the C/C rs2737 genotype was much lower in patients who developed colorectal cancer below the age of 45 years than in individuals over age 45 years (10.8% versus 26.6%, P = 0.039). | 0.002714419 | 2011 | CDK5RAP3 | 17 | 47981705 | T | C |
| rs2853533 | 23893618 | 7298 | TYMS | umls:C0009402 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.032573025 | 2013 | TYMS;TYMSOS | 18 | 658064 | G | C |
| rs2853533 | 23893618 | 4522 | MTHFD1 | umls:C1527249 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.015016517 | 2013 | TYMS;TYMSOS | 18 | 658064 | G | C |
| rs2853533 | 23893618 | 7298 | TYMS | umls:C1527249 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.111758699 | 2013 | TYMS;TYMSOS | 18 | 658064 | G | C |
| rs2853533 | 23893618 | 4522 | MTHFD1 | umls:C0009402 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.000814326 | 2013 | TYMS;TYMSOS | 18 | 658064 | G | C |
| rs28930073 | 15184898 | 4292 | MLH1 | umls:C1527249 | BeFree | The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. | 0.16 | 2004 | MLH1 | 3 | 37007004 | G | C |
| rs28930073 | 15991064 | 4292 | MLH1 | umls:C1527249 | BeFree | Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to be cost effective for genetic risk assessment in American population-based and clinic-based colorectal cancer and endometrial cancer patients. | 0.16 | 2005 | MLH1 | 3 | 37007004 | G | C |
| rs28930073 | 15991064 | 4292 | MLH1 | umls:C0009402 | BeFree | Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to be cost effective for genetic risk assessment in American population-based and clinic-based colorectal cancer and endometrial cancer patients. | 0.082367032 | 2005 | MLH1 | 3 | 37007004 | G | C |
| rs28930073 | 15184898 | 4292 | MLH1 | umls:C0009402 | BeFree | The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. | 0.082367032 | 2004 | MLH1 | 3 | 37007004 | G | C |
| rs2910164 | 25519012 | 406938 | MIR146A | umls:C0009402 | BeFree | Our findings suggest that the rs2910164 polymorphism in pre-miRNA, miR-146a may be associated with the risk of CRC. | 0.003528744 | 2016 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24136745 | 406938 | MIR146A | umls:C1527249 | BeFree | MiR-146a (rs2910164 G > C) polymorphism is associated with CRC susceptibility and histological differentiation in Chinese Han population. | 0.003800186 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24247819 | 406938 | MIR146A | umls:C1527249 | BeFree | We found that the miR-146a polymorphism rs2910164 might significantly increase the susceptibility of digestive tumors, in particular for esophageal cancer and colorectal cancers. | 0.003800186 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24399071 | 406938 | MIR146A | umls:C1527249 | BeFree | Effects of common polymorphisms rs2910164 in miR-146a and rs11614913 in miR-196a2 on susceptibility to colorectal cancer: a systematic review meta-analysis. | 0.003800186 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24136745 | 406938 | MIR146A | umls:C0009402 | BeFree | MiR-146a (rs2910164 G > C) polymorphism is associated with CRC susceptibility and histological differentiation in Chinese Han population. | 0.003528744 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24399071 | 406938 | MIR146A | umls:C0009402 | BeFree | Effects of common polymorphisms rs2910164 in miR-146a and rs11614913 in miR-196a2 on susceptibility to colorectal cancer: a systematic review meta-analysis. | 0.003528744 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 25283877 | 406938 | MIR146A | umls:C0009402 | BeFree | Effect of a common genetic variant microRNA-146a rs2910164 on colorectal cancer: a meta-analysis. | 0.003528744 | 2015 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 25519012 | 406938 | MIR146A | umls:C1527249 | BeFree | Our findings suggest that the rs2910164 polymorphism in pre-miRNA, miR-146a may be associated with the risk of CRC. | 0.003800186 | 2016 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 23898084 | 406938 | MIR146A | umls:C0009402 | BeFree | A miR-146a polymorphism (rs2910164) predicts risk of and survival from colorectal cancer. | 0.003528744 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 23898084 | 406938 | MIR146A | umls:C1527249 | BeFree | A miR-146a polymorphism (rs2910164) predicts risk of and survival from colorectal cancer. | 0.003800186 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 25283877 | 406938 | MIR146A | umls:C1527249 | BeFree | Effect of a common genetic variant microRNA-146a rs2910164 on colorectal cancer: a meta-analysis. | 0.003800186 | 2015 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2946834 | 23180020 | 3479 | IGF1 | umls:C0009402 | BeFree | Recently, IGF-1 single nucleotide polymorphisms (SNPs), especially variant rs2946834, have been associated with poor clinical outcome in patients with colorectal cancer. | 0.007600372 | 2013 | LOC105369942 | 12 | 102394036 | A | G |
| rs2946834 | 23180020 | 3479 | IGF1 | umls:C1527249 | BeFree | Recently, IGF-1 single nucleotide polymorphisms (SNPs), especially variant rs2946834, have been associated with poor clinical outcome in patients with colorectal cancer. | 0.03309484 | 2013 | LOC105369942 | 12 | 102394036 | A | G |
| rs29941 | 22511254 | 79047 | KCTD15 | umls:C1527249 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.000271442 | 2012 | NA | 19 | 33818627 | A | G |
| rs29941 | 22511254 | 4160 | MC4R | umls:C0009402 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.000542884 | 2012 | NA | 19 | 33818627 | A | G |
| rs29941 | 22511254 | 79047 | KCTD15 | umls:C0009402 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.000271442 | 2012 | NA | 19 | 33818627 | A | G |
| rs29941 | 22511254 | 4160 | MC4R | umls:C1527249 | BeFree | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ratio (OR) for C allele = 0.90, 95% confidence interval (CI) 0.83-0.98; p = 0.01] and MC4R rs17782313 (OR for C allele = 1.12, 95% CI 1.02-1.22; p = 0.02). | 0.002909916 | 2012 | NA | 19 | 33818627 | A | G |
| rs3024505 | 24889212 | 3586 | IL10 | umls:C0009402 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.005971721 | 2014 | NA | 1 | 206766559 | G | A |
| rs3024505 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | NA | 1 | 206766559 | G | A |
| rs3024505 | 24889212 | 3586 | IL10 | umls:C1527249 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.012801375 | 2014 | NA | 1 | 206766559 | G | A |
| rs3024505 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | NA | 1 | 206766559 | G | A |
| rs3024505 | 24889212 | 4609 | MYC | umls:C1527249 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.011324614 | 2014 | NA | 1 | 206766559 | G | A |
| rs3024505 | 24889212 | 4609 | MYC | umls:C0009402 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.011596056 | 2014 | NA | 1 | 206766559 | G | A |
| rs3106189 | 23940558 | 6892 | TAPBP | umls:C1527249 | BeFree | Finally, we determined that rs3106189, localized to the 5' UTR of antigen presenting tapasin binding protein (TAPBP), and rs1052918, localized to the 3' UTR of transcription factor 3 (TCF3), were associated with overall survival of CRC patients. | 0.000271442 | 2013 | TAPBP;ZBTB22 | 6 | 33314225 | C | T |
| rs3106189 | 23940558 | 6929 | TCF3 | umls:C1527249 | BeFree | Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | 0.001085767 | 2013 | TAPBP;ZBTB22 | 6 | 33314225 | C | T |
| rs3106189 | 23940558 | 6929 | TCF3 | umls:C0009402 | BeFree | Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | 0.001085767 | 2013 | TAPBP;ZBTB22 | 6 | 33314225 | C | T |
| rs3106189 | 23940558 | 6892 | TAPBP | umls:C0009402 | BeFree | Finally, we determined that rs3106189, localized to the 5' UTR of antigen presenting tapasin binding protein (TAPBP), and rs1052918, localized to the 3' UTR of transcription factor 3 (TCF3), were associated with overall survival of CRC patients. | 0.000271442 | 2013 | TAPBP;ZBTB22 | 6 | 33314225 | C | T |
| rs314277 | 23052130 | 389421 | LIN28B | umls:C0009402 | BeFree | We find that LIN28B rs314277 is associated with significant recurrence of colorectal cancer in Stage II disease, which may have translational therapeutic implications. | 0.000542884 | 2012 | LIN28B | 6 | 104959787 | A | C |
| rs314277 | 23052130 | 389421 | LIN28B | umls:C1527249 | BeFree | We find that LIN28B rs314277 is associated with significant recurrence of colorectal cancer in Stage II disease, which may have translational therapeutic implications. | 0.000542884 | 2012 | LIN28B | 6 | 104959787 | A | C |
| rs3206824 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3206824 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | DKK3 | 11 | 11964514 | T | C |
| rs3212986 | 24861646 | 2072 | ERCC4 | umls:C0009402 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.000814326 | 2014 | ERCC1;CD3EAP | 19 | 45409478 | C | A |
| rs3212986 | 24861646 | 2072 | ERCC4 | umls:C1527249 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.00554839 | 2014 | ERCC1;CD3EAP | 19 | 45409478 | C | A |
| rs3217810 | 23266556 | 894 | CCND2 | umls:C1527249 | GWASCAT | We also provided evidence for an association between colorectal tumor risk and polymorphisms in laminin gamma 1 (this is the second gene in the laminin family to be associated with colorectal cancers), cyclin D2 (which encodes for cyclin D2), and T-box 3 (which encodes a T-box transcription factor and is a target of Wnt signaling to β-catenin). | 0.120542884 | 2013 | CCND2 | 12 | 4279105 | C | T |
| rs3217901 | 23266556 | 894 | CCND2 | umls:C1527249 | GWASCAT | We also provided evidence for an association between colorectal tumor risk and polymorphisms in laminin gamma 1 (this is the second gene in the laminin family to be associated with colorectal cancers), cyclin D2 (which encodes for cyclin D2), and T-box 3 (which encodes a T-box transcription factor and is a target of Wnt signaling to β-catenin). | 0.120542884 | 2013 | CCND2 | 12 | 4296223 | A | G |
| rs3219145 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 4255 | MGMT | umls:C0009402 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.014386419 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 142 | PARP1 | umls:C0009402 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.003257302 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 4255 | MGMT | umls:C1527249 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.033322675 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 142 | PARP1 | umls:C1527249 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.01062984 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219145 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | PARP1 | 1 | 226363128 | T | G,C |
| rs3219489 | 18823566 | 4595 | MUTYH | umls:C0009402 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.027687071 | 2008 | MUTYH | 1 | 45331833 | C | G |
| rs3219489 | 18823566 | 328 | APEX1 | umls:C1527249 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.011911105 | 2008 | MUTYH | 1 | 45331833 | C | G |
| rs3219489 | 18823566 | 4595 | MUTYH | umls:C1527249 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.105527684 | 2008 | MUTYH | 1 | 45331833 | C | G |
| rs3219489 | 18823566 | 328 | APEX1 | umls:C0009402 | BeFree | Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. | 0.002714419 | 2008 | MUTYH | 1 | 45331833 | C | G |
| rs34245511 | 24737748 | 51474 | LIMA1 | umls:C1527249 | GWASCAT | Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. | 0.12 | 2015 | LIMA1 | 12 | 50179650 | G | C |
| rs34743033 | 23401104 | 7298 | TYMS | umls:C1527249 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.111758699 | 2013 | NA | NA | NA | NA | NA |
| rs34743033 | 23401104 | 6470 | SHMT1 | umls:C0009402 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.001085767 | 2013 | NA | NA | NA | NA | NA |
| rs34743033 | 23401104 | 6470 | SHMT1 | umls:C1527249 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.010553895 | 2013 | NA | NA | NA | NA | NA |
| rs34743033 | 23401104 | 7298 | TYMS | umls:C0009402 | BeFree | Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). | 0.032573025 | 2013 | NA | NA | NA | NA | NA |
| rs351855 | 16012724 | 2264 | FGFR4 | umls:C1527249 | BeFree | FGFR4 Gly388Arg polymorphism and prognosis of breast and colorectal cancer. | 0.004538567 | 2005 | FGFR4 | 5 | 177093242 | G | A |
| rs351855 | 16012724 | 2264 | FGFR4 | umls:C0009402 | BeFree | FGFR4 Gly388Arg polymorphism and prognosis of breast and colorectal cancer. | 0.002714419 | 2005 | FGFR4 | 5 | 177093242 | G | A |
| rs354476 | 22282400 | 23199 | GSE1 | umls:C0009402 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | NUP210 | 3 | 13316486 | A | G |
| rs354476 | 22282400 | 23199 | GSE1 | umls:C1527249 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | NUP210 | 3 | 13316486 | A | G |
| rs354476 | 22282400 | 23225 | NUP210 | umls:C1527249 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | NUP210 | 3 | 13316486 | A | G |
| rs354476 | 22282400 | 23225 | NUP210 | umls:C0009402 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | NUP210 | 3 | 13316486 | A | G |
| rs35502531 | 24743384 | 4292 | MLH1 | umls:C0009402 | BeFree | The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. | 0.082367032 | 2014 | NA | NA | NA | NA | NA |
| rs35502531 | 24743384 | 4292 | MLH1 | umls:C1527249 | BeFree | The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. | 0.16 | 2014 | NA | NA | NA | NA | NA |
| rs35502531 | 22426235 | 4292 | MLH1 | umls:C1527249 | BeFree | We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer. | 0.16 | 2012 | NA | NA | NA | NA | NA |
| rs35502531 | 22426235 | 4292 | MLH1 | umls:C0009402 | BeFree | We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer. | 0.082367032 | 2012 | NA | NA | NA | NA | NA |
| rs361863 | 21239504 | 3977 | LIFR | umls:C0009402 | BeFree | Cytotoxicity analyses showed that all RKO and HCT116 CRC clones transfected with the G allele at LIFR rs3729740 and the C allele at ISX rs361863 were more sensitive to cetuximab regimens than those with the A and T allele, respectively (P ≤ 0.001-0.024). | 0.000542884 | 2011 | ISX | 22 | 35067169 | A | G |
| rs361863 | 21239504 | 3977 | LIFR | umls:C1527249 | BeFree | Cytotoxicity analyses showed that all RKO and HCT116 CRC clones transfected with the G allele at LIFR rs3729740 and the C allele at ISX rs361863 were more sensitive to cetuximab regimens than those with the A and T allele, respectively (P ≤ 0.001-0.024). | 0.000542884 | 2011 | ISX | 22 | 35067169 | A | G |
| rs371373982 | 24145035 | 57599 | WDR48 | umls:C1527249 | BeFree | Importantly, we found a WDR48 somatic mutation (L580F) that is defective in stabilizing PHLPP1 in colorectal cancers, supporting a WDR48 role in tumor suppression. | 0.000271442 | 2014 | WDR48 | 3 | 39091696 | A | T |
| rs371373982 | 24145035 | 23239 | PHLPP1 | umls:C1527249 | BeFree | Importantly, we found a WDR48 somatic mutation (L580F) that is defective in stabilizing PHLPP1 in colorectal cancers, supporting a WDR48 role in tumor suppression. | 0.000814326 | 2014 | WDR48 | 3 | 39091696 | A | T |
| rs3729740 | 21239504 | 3977 | LIFR | umls:C1527249 | BeFree | Cytotoxicity analyses showed that all RKO and HCT116 CRC clones transfected with the G allele at LIFR rs3729740 and the C allele at ISX rs361863 were more sensitive to cetuximab regimens than those with the A and T allele, respectively (P ≤ 0.001-0.024). | 0.000542884 | 2011 | LIFR | 5 | 38496535 | C | T |
| rs3729740 | 21239504 | 3977 | LIFR | umls:C0009402 | BeFree | Cytotoxicity analyses showed that all RKO and HCT116 CRC clones transfected with the G allele at LIFR rs3729740 and the C allele at ISX rs361863 were more sensitive to cetuximab regimens than those with the A and T allele, respectively (P ≤ 0.001-0.024). | 0.000542884 | 2011 | LIFR | 5 | 38496535 | C | T |
| rs373204088 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | SLC38A1 | 12 | 46209126 | C | T |
| rs373204088 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | SLC38A1 | 12 | 46209126 | C | T |
| rs373204088 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | SLC38A1 | 12 | 46209126 | C | T |
| rs373204088 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | SLC38A1 | 12 | 46209126 | C | T |
| rs373204088 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | SLC38A1 | 12 | 46209126 | C | T |
| rs373204088 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | SLC38A1 | 12 | 46209126 | C | T |
| rs3735684 | 20602611 | 54905 | CYP2W1 | umls:C0009402 | BeFree | CYP2W1 variant alleles in Caucasians and association of the CYP2W1 G541A (Ala181Thr) polymorphism with increased colorectal cancer risk. | 0.000814326 | 2010 | CYP2W1;C7orf50 | 7 | 985219 | G | A |
| rs3735684 | 20602611 | 54905 | CYP2W1 | umls:C1527249 | BeFree | CYP2W1 variant alleles in Caucasians and association of the CYP2W1 G541A (Ala181Thr) polymorphism with increased colorectal cancer risk. | 0.003181358 | 2010 | CYP2W1;C7orf50 | 7 | 985219 | G | A |
| rs3750824 | 20192566 | 4255 | MGMT | umls:C0009402 | BeFree | However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI). | 0.014386419 | 2009 | MGMT | 10 | 129759310 | G | A |
| rs3750824 | 20192566 | 4255 | MGMT | umls:C1527249 | BeFree | However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI). | 0.033322675 | 2009 | MGMT | 10 | 129759310 | G | A |
| rs3757417 | 25079514 | 8460 | TPST1 | umls:C0009402 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000271442 | 2014 | TPST1 | 7 | 66360270 | T | G |
| rs3757417 | 25079514 | 124220 | ZG16B | umls:C1527249 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000542884 | 2014 | TPST1 | 7 | 66360270 | T | G |
| rs3757417 | 25079514 | 124220 | ZG16B | umls:C0009402 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000542884 | 2014 | TPST1 | 7 | 66360270 | T | G |
| rs3757417 | 25079514 | 8460 | TPST1 | umls:C1527249 | BeFree | The current study provides evidence that the TPST1 rs3757417T>G and PAUF rs12373A>C polymorphisms are possible prognostic biomarkers for patients with colorectal cancer. | 0.000271442 | 2014 | TPST1 | 7 | 66360270 | T | G |
| rs3761548 | 25416053 | 50943 | FOXP3 | umls:C0009402 | BeFree | Association of FoxP3 rs3761548 polymorphism with susceptibility to colorectal cancer in the Chinese population. | 0.00434307 | 2014 | FOXP3 | X | 49261784 | G | T |
| rs3761548 | 25416053 | 50943 | FOXP3 | umls:C1527249 | BeFree | Association of FoxP3 rs3761548 polymorphism with susceptibility to colorectal cancer in the Chinese population. | 0.004614512 | 2014 | FOXP3 | X | 49261784 | G | T |
| rs3775291 | 21239167 | 7098 | TLR3 | umls:C0009402 | BeFree | More importantly, among 582 followed up patients the SNP rs3775291 in the toll-like receptor 3 (TLR-3) gene was associated with CRC specific survival (150 events). | 0.000542884 | 2011 | TLR3 | 4 | 186082920 | C | T,G |
| rs3775291 | 21239167 | 7098 | TLR3 | umls:C1527249 | BeFree | More importantly, among 582 followed up patients the SNP rs3775291 in the toll-like receptor 3 (TLR-3) gene was associated with CRC specific survival (150 events). | 0.000542884 | 2011 | TLR3 | 4 | 186082920 | C | T,G |
| rs377655174 | 21618522 | 5743 | PTGS2 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.094180531 | 2012 | PTGS2 | 1 | 186678374 | G | A |
| rs377655174 | 21618522 | 5743 | PTGS2 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.051302514 | 2012 | PTGS2 | 1 | 186678374 | G | A |
| rs377655174 | 21618522 | 81539 | SLC38A1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | PTGS2 | 1 | 186678374 | G | A |
| rs377655174 | 21618522 | 1545 | CYP1B1 | umls:C1527249 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.029837538 | 2012 | PTGS2 | 1 | 186678374 | G | A |
| rs377655174 | 21618522 | 81539 | SLC38A1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.010314791 | 2012 | PTGS2 | 1 | 186678374 | G | A |
| rs377655174 | 21618522 | 1545 | CYP1B1 | umls:C0009402 | BeFree | We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk. | 0.003257302 | 2012 | PTGS2 | 1 | 186678374 | G | A |
| rs3802842 | 25766683 | 120376 | COLCA2 | umls:C1527249 | BeFree | The CRC-associated eQTL rs3802842 was associated with the expression of C11orf93 (COLCA2). | 0.121085767 | 2015 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 25766683 | 120376 | COLCA2 | umls:C0009402 | BeFree | The CRC-associated eQTL rs3802842 was associated with the expression of C11orf93 (COLCA2). | 0.001085767 | 2015 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 18372901 | 399948 | COLCA1 | umls:C1527249 | GWASCAT | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. | 0.125276948 | 2008 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 24836286 | 399948 | COLCA1 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.125276948 | 2014 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 23266556 | 399948 | COLCA1 | umls:C1527249 | GWASCAT | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | 0.125276948 | 2013 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 23266556 | 120376 | COLCA2 | umls:C1527249 | GWASCAT | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | 0.121085767 | 2013 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 21761138 | 120376 | COLCA2 | umls:C1527249 | GWASCAT | Meta-analysis of new genome-wide association studies of colorectal cancer risk. | 0.121085767 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 24836286 | 120376 | COLCA2 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.121085767 | 2014 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 18372901 | 120376 | COLCA2 | umls:C1527249 | GWASCAT | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. | 0.121085767 | 2008 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3802842 | 21761138 | 399948 | COLCA1 | umls:C1527249 | GWASCAT | Meta-analysis of new genome-wide association studies of colorectal cancer risk. | 0.125276948 | 2012 | COLCA2;COLCA1 | 11 | 111300984 | C | A |
| rs3803185 | 17449901 | 115761 | ARL11 | umls:C1527249 | BeFree | Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. | 0.007915422 | 2007 | ARL11 | 13 | 49630889 | T | C |
| rs3803185 | 21819567 | 4163 | MCC | umls:C1527249 | BeFree | The rs3803185 variant was not significantly associated with CRC risk in an external cohort (MCC-Spain), but it still showed some borderline significance in the pooled analysis of both cohorts (OR = 1.08, 95% CI = 0.98-1.18, P-value = 0.09, log-additive 0, 1, 2 alleles). | 0.002985861 | 2011 | ARL11 | 13 | 49630889 | T | C |
| rs3803185 | 17449901 | 115761 | ARL11 | umls:C0009402 | BeFree | Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. | 0.000814326 | 2007 | ARL11 | 13 | 49630889 | T | C |
| rs3803185 | 21819567 | 4163 | MCC | umls:C0009402 | BeFree | The rs3803185 variant was not significantly associated with CRC risk in an external cohort (MCC-Spain), but it still showed some borderline significance in the pooled analysis of both cohorts (OR = 1.08, 95% CI = 0.98-1.18, P-value = 0.09, log-additive 0, 1, 2 alleles). | 0.003528744 | 2011 | ARL11 | 13 | 49630889 | T | C |
| rs3813867 | 23595220 | 1571 | CYP2E1 | umls:C1527249 | BeFree | Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic review and meta-analysis. | 0.042487023 | 2013 | CYP2E1 | 10 | 133526101 | G | C |
| rs3813867 | 23595220 | 1571 | CYP2E1 | umls:C0009402 | BeFree | Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic review and meta-analysis. | 0.004071628 | 2013 | CYP2E1 | 10 | 133526101 | G | C |
| rs3824999 | 22634755 | 10714 | POLD3 | umls:C1527249 | GWASCAT | Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. | 0.120271442 | 2012 | POLD3 | 11 | 74634505 | T | G |
| rs3834129 | 24465592 | 841 | CASP8 | umls:C0009402 | BeFree | Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study. | 0.004614512 | 2013 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3834129 | 24465592 | 841 | CASP8 | umls:C1527249 | BeFree | Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study. | 0.011172724 | 2013 | CASP8 | 2 | 201232809 | AGTAAG | - |
| rs3856806 | 18992148 | 5468 | PPARG | umls:C1527249 | BeFree | On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T (p.His477His), were associated with a decrease in CRC risk. | 0.038990617 | 2008 | PPARG | 3 | 12434058 | C | T |
| rs3856806 | 18992148 | 5320 | PLA2G2A | umls:C1527249 | BeFree | On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T (p.His477His), were associated with a decrease in CRC risk. | 0.006091273 | 2008 | PPARG | 3 | 12434058 | C | T |
| rs386425447 | 15646429 | 1630 | DCC | umls:C1527249 | BeFree | No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer. | 0.014039032 | 2004 | NA | NA | NA | NA | NA |
| rs386425447 | 15646429 | 1630 | DCC | umls:C0009402 | BeFree | No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer. | 0.01302921 | 2004 | NA | NA | NA | NA | NA |
| rs386448489 | 15193445 | 27030 | MLH3 | umls:C1527249 | BeFree | No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | 0.011639663 | 2004 | NA | NA | NA | NA | NA |
| rs386448489 | 15193445 | 27030 | MLH3 | umls:C0009402 | BeFree | No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | 0.002171535 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 21971103 | 7157 | TP53 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.084734064 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 21971103 | 7157 | TP53 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.16 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 15914278 | 7517 | XRCC3 | umls:C0009402 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.004885954 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 25024628 | 7515 | XRCC1 | umls:C0009402 | BeFree | APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC1 Arg399Gln and CRC risk in the Chinese Han population. | 0.012681823 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 23317245 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.012681823 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 25921133 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association of XRCC1 Arg399Gln Polymorphism with Colorectal Cancer Risk: A HuGE Meta Analysis of 35 Studies. | 0.062389495 | 2016 | NA | NA | NA | NA | NA |
| rs386493716 | 21612998 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.012681823 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 21971103 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.062389495 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 15914278 | 7517 | XRCC3 | umls:C1527249 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.028556273 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 24377605 | 7515 | XRCC1 | umls:C1527249 | BeFree | The XRCC1 Arg399Gln gene polymorphism and risk of colorectal cancer: a study in Kashmir. | 0.062389495 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | NA | NA | NA | NA | NA |
| rs386493716 | 23712778 | 7515 | XRCC1 | umls:C0009402 | BeFree | XRCC1 Arg399Gln polymorphism contributes to increased risk of colorectal cancer in Chinese population. | 0.012681823 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 21971103 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. | 0.012681823 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | NA | NA | NA | NA | NA |
| rs386493716 | 24224851 | 7515 | XRCC1 | umls:C1527249 | BeFree | However, we did not observe a significant association between XRCC1 Arg399Gln polymorphism and hazard for PFS and OS for gastric and colorectal cancer patients in all tested models. | 0.062389495 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 25582318 | 7515 | XRCC1 | umls:C0009402 | BeFree | XRCC1 R399Q polymorphism and colorectal cancer risk in the Chinese Han population: a meta-analysis. | 0.012681823 | 2015 | NA | NA | NA | NA | NA |
| rs386493716 | 15914278 | 2068 | ERCC2 | umls:C1527249 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.057503541 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 23188703 | 7515 | XRCC1 | umls:C1527249 | BeFree | The meta-analysis suggests that the XRCC1 Arg399Gln polymorphism is associated with increased risk of CRC. | 0.062389495 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 24224851 | 7515 | XRCC1 | umls:C0009402 | BeFree | However, we did not observe a significant association between XRCC1 Arg399Gln polymorphism and hazard for PFS and OS for gastric and colorectal cancer patients in all tested models. | 0.012681823 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 25582318 | 7515 | XRCC1 | umls:C1527249 | BeFree | XRCC1 R399Q polymorphism and colorectal cancer risk in the Chinese Han population: a meta-analysis. | 0.062389495 | 2015 | NA | NA | NA | NA | NA |
| rs386493716 | 21612998 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.062389495 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 18806752 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.062389495 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 24157118 | 2068 | ERCC2 | umls:C1527249 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.057503541 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 15914278 | 2068 | ERCC2 | umls:C0009402 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.010434343 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 23317245 | 7515 | XRCC1 | umls:C1527249 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.062389495 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | NA | NA | NA | NA | NA |
| rs386493716 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | NA | NA | NA | NA | NA |
| rs386493716 | 24157118 | 2068 | ERCC2 | umls:C0009402 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.010434343 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 18806752 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.012681823 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 24157118 | 7515 | XRCC1 | umls:C0009402 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.012681823 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 24377605 | 7515 | XRCC1 | umls:C0009402 | BeFree | The XRCC1 Arg399Gln gene polymorphism and risk of colorectal cancer: a study in Kashmir. | 0.012681823 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 23712778 | 7515 | XRCC1 | umls:C1527249 | BeFree | XRCC1 Arg399Gln polymorphism contributes to increased risk of colorectal cancer in Chinese population. | 0.062389495 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 15914278 | 7515 | XRCC1 | umls:C0009402 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.012681823 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | NA | NA | NA | NA | NA |
| rs386493716 | 23317245 | 2068 | ERCC2 | umls:C0009402 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.010434343 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 23188703 | 7515 | XRCC1 | umls:C0009402 | BeFree | The meta-analysis suggests that the XRCC1 Arg399Gln polymorphism is associated with increased risk of CRC. | 0.012681823 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 23317245 | 2068 | ERCC2 | umls:C1527249 | BeFree | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population. | 0.057503541 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 25024628 | 7515 | XRCC1 | umls:C1527249 | BeFree | APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC1 Arg399Gln and CRC risk in the Chinese Han population. | 0.062389495 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 15914278 | 7515 | XRCC1 | umls:C1527249 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.062389495 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 24157118 | 7515 | XRCC1 | umls:C1527249 | BeFree | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas. | 0.062389495 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 25921133 | 7515 | XRCC1 | umls:C0009402 | BeFree | Association of XRCC1 Arg399Gln Polymorphism with Colorectal Cancer Risk: A HuGE Meta Analysis of 35 Studies. | 0.012681823 | 2016 | NA | NA | NA | NA | NA |
| rs386493716 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 142 | PARP1 | umls:C1527249 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.01062984 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 7515 | XRCC1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.062389495 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 4255 | MGMT | umls:C1527249 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.033322675 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 16633920 | 4255 | MGMT | umls:C0009402 | BeFree | O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States). | 0.014386419 | 2006 | NA | NA | NA | NA | NA |
| rs386526551 | 16633920 | 2099 | ESR1 | umls:C1527249 | BeFree | Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. | 0.012182547 | 2006 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 7515 | XRCC1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.012681823 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 16633920 | 2099 | ESR1 | umls:C0009402 | BeFree | Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. | 0.003800186 | 2006 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 142 | PARP1 | umls:C0009402 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.003257302 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 4255 | MGMT | umls:C0009402 | BeFree | We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). | 0.014386419 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 16633920 | 4255 | MGMT | umls:C1527249 | BeFree | O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States). | 0.033322675 | 2006 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | NA | NA | NA | NA | NA |
| rs386526551 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | NA | NA | NA | NA | NA |
| rs386545044 | 18996005 | 11200 | CHEK2 | umls:C1527249 | BeFree | The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. | 0.026265186 | 2009 | NA | NA | NA | NA | NA |
| rs386545044 | 23713947 | 11200 | CHEK2 | umls:C1527249 | BeFree | This meta-analysis demonstrates that the CHEK2 I157T variant was an important cancer gene, which increases cancer risk, especially in breast and colorectal cancer in Caucasian, and the bioinformatic analysis showed this change was mainly attributed to the decreased hydrophobicity of CHEK2 157T. | 0.026265186 | 2013 | NA | NA | NA | NA | NA |
| rs386545044 | 23713947 | 11200 | CHEK2 | umls:C0009402 | BeFree | This meta-analysis demonstrates that the CHEK2 I157T variant was an important cancer gene, which increases cancer risk, especially in breast and colorectal cancer in Caucasian, and the bioinformatic analysis showed this change was mainly attributed to the decreased hydrophobicity of CHEK2 157T. | 0.007057489 | 2013 | NA | NA | NA | NA | NA |
| rs386545044 | 22901170 | 1111 | CHEK1 | umls:C0009402 | BeFree | The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of colorectal cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. | 0.001628651 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 22294770 | 11200 | CHEK2 | umls:C1527249 | BeFree | Rare variants in CHEK2 (I157T and possibly del1100C) also appear to be associated with CRC risk. | 0.026265186 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 22901170 | 1111 | CHEK1 | umls:C1527249 | BeFree | The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of colorectal cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. | 0.004267125 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 22901170 | 11200 | CHEK2 | umls:C0009402 | BeFree | The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. | 0.007057489 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 22294770 | 11200 | CHEK2 | umls:C0009402 | BeFree | Rare variants in CHEK2 (I157T and possibly del1100C) also appear to be associated with CRC risk. | 0.007057489 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 18996005 | 11200 | CHEK2 | umls:C0009402 | BeFree | The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. | 0.007057489 | 2009 | NA | NA | NA | NA | NA |
| rs386545044 | 16816021 | 11200 | CHEK2 | umls:C1527249 | BeFree | CHEK2 I157T associates with familial and sporadic colorectal cancer. | 0.026265186 | 2006 | NA | NA | NA | NA | NA |
| rs386545044 | 22521562 | 11200 | CHEK2 | umls:C0009402 | BeFree | Our result demonstrate for the first time that CHEK2 1100delC, IVS2+1G>A and I157T mutations have not been agenetic susceptibility factor for CRC in the Turkish population. | 0.007057489 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 22521562 | 11200 | CHEK2 | umls:C1527249 | BeFree | Our result demonstrate for the first time that CHEK2 1100delC, IVS2+1G>A and I157T mutations have not been agenetic susceptibility factor for CRC in the Turkish population. | 0.026265186 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 22901170 | 11200 | CHEK2 | umls:C1527249 | BeFree | The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. | 0.026265186 | 2012 | NA | NA | NA | NA | NA |
| rs386545044 | 16816021 | 11200 | CHEK2 | umls:C0009402 | BeFree | CHEK2 I157T associates with familial and sporadic colorectal cancer. | 0.007057489 | 2006 | NA | NA | NA | NA | NA |
| rs386545044 | 20658728 | 11200 | CHEK2 | umls:C1527249 | BeFree | CHEK2 I157T and colorectal cancer in Bulgaria. | 0.026265186 | 2010 | NA | NA | NA | NA | NA |
| rs386545044 | 20658728 | 11200 | CHEK2 | umls:C0009402 | BeFree | CHEK2 I157T and colorectal cancer in Bulgaria. | 0.007057489 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 18806752 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.012681823 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 18006925 | 2068 | ERCC2 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.010434343 | 2007 | NA | NA | NA | NA | NA |
| rs386545546 | 21037106 | 7515 | XRCC1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.062389495 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 21037106 | 4968 | OGG1 | umls:C1527249 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.029642041 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 18006925 | 4968 | OGG1 | umls:C0009402 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.006243163 | 2007 | NA | NA | NA | NA | NA |
| rs386545546 | 21612998 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.062389495 | 2011 | NA | NA | NA | NA | NA |
| rs386545546 | 21037106 | 4968 | OGG1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.006243163 | 2010 | NA | NA | NA | NA | NA |
| rs386545546 | 23857281 | 7515 | XRCC1 | umls:C1527249 | BeFree | The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC, particularly colon cancer. | 0.062389495 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 18006925 | 2068 | ERCC2 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.057503541 | 2007 | NA | NA | NA | NA | NA |
| rs386545546 | 21612998 | 7515 | XRCC1 | umls:C0009402 | BeFree | No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. | 0.012681823 | 2011 | NA | NA | NA | NA | NA |
| rs386545546 | 18006925 | 4968 | OGG1 | umls:C1527249 | BeFree | In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphisms in five DNA repair genes: XRCC1 (Arg(194)Trp and Arg(399)Gln), PARP (Val(762)Ala, Lys(940)Arg), XPD (Asp(312)Asn, Lys(751)Gln), OGG1 (Ser(326)Cys), and MGMT (Leu(84)Phe). | 0.029642041 | 2007 | NA | NA | NA | NA | NA |
| rs386545546 | 18806752 | 7515 | XRCC1 | umls:C1527249 | BeFree | No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. | 0.062389495 | 2008 | NA | NA | NA | NA | NA |
| rs386545546 | 23857281 | 7515 | XRCC1 | umls:C0009402 | BeFree | The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC, particularly colon cancer. | 0.012681823 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 21037106 | 7515 | XRCC1 | umls:C0009402 | BeFree | Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His, Asp148Glu; OGG1 Ser236Cys; PARP Val742Ala; and XRCC1 Arg194Trp, Arg280His, Arg399Gln) as potential CRC risk factors and modifiers of the association between diets high in red meat or poultry and CRC risk. | 0.012681823 | 2010 | NA | NA | NA | NA | NA |
| rs386545580 | 22459615 | 1545 | CYP1B1 | umls:C1527249 | BeFree | CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. | 0.029837538 | 2012 | NA | NA | NA | NA | NA |
| rs386545580 | 22459615 | 1545 | CYP1B1 | umls:C0009402 | BeFree | CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. | 0.003257302 | 2012 | NA | NA | NA | NA | NA |
| rs386545618 | 17000706 | 4524 | MTHFR | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.106872745 | 2006 | NA | NA | NA | NA | NA |
| rs386545618 | 17000706 | 4524 | MTHFR | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.026329862 | 2006 | NA | NA | NA | NA | NA |
| rs386545618 | 17000706 | 472 | ATM | umls:C0009402 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.002442977 | 2006 | NA | NA | NA | NA | NA |
| rs386545618 | 17000706 | 472 | ATM | umls:C1527249 | BeFree | Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | 0.003995683 | 2006 | NA | NA | NA | NA | NA |
| rs386556293 | 24248547 | 177 | AGER | umls:C1527249 | BeFree | In conclusion, the RAGE gene Gly82Ser polymorphism may confer not only an increased risk of CRC but also an increased invasion of CRC in the Chinese population. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | NA | NA | NA | NA | NA |
| rs386559608 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | NA | NA | NA | NA | NA |
| rs386561660 | 24385304 | 7508 | XPC | umls:C1527249 | BeFree | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of case-control studies. | 0.007448483 | 2013 | NA | NA | NA | NA | NA |
| rs386561660 | 24385304 | 7508 | XPC | umls:C0009402 | BeFree | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of case-control studies. | 0.003257302 | 2013 | NA | NA | NA | NA | NA |
| rs386561660 | 25355595 | 7508 | XPC | umls:C0009402 | BeFree | Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased risk of CRC. | 0.003257302 | 2014 | NA | NA | NA | NA | NA |
| rs386561660 | 25355595 | 7508 | XPC | umls:C1527249 | BeFree | Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased risk of CRC. | 0.007448483 | 2014 | NA | NA | NA | NA | NA |
| rs386596027 | 17224235 | 7157 | TP53 | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.084734064 | 2007 | NA | NA | NA | NA | NA |
| rs386596027 | 17224235 | 7157 | TP53 | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.16 | 2007 | NA | NA | NA | NA | NA |
| rs386596027 | 16054567 | 6041 | RNASEL | umls:C0009402 | BeFree | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. | 0.000814326 | 2005 | NA | NA | NA | NA | NA |
| rs386596027 | 17224235 | 6041 | RNASEL | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.003181358 | 2007 | NA | NA | NA | NA | NA |
| rs386596027 | 16054567 | 6041 | RNASEL | umls:C1527249 | BeFree | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. | 0.003181358 | 2005 | NA | NA | NA | NA | NA |
| rs386596027 | 17224235 | 6041 | RNASEL | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.000814326 | 2007 | NA | NA | NA | NA | NA |
| rs391957 | 21382870 | 3309 | HSPA5 | umls:C1527249 | BeFree | GRP78 promoter polymorphism rs391957 as potential predictor for clinical outcome in gastric and colorectal cancer patients. | 0.002171535 | 2011 | HSPA5;GAPVD1 | 9 | 125241745 | T | C |
| rs391957 | 21382870 | 3309 | HSPA5 | umls:C0009402 | BeFree | GRP78 promoter polymorphism rs391957 as potential predictor for clinical outcome in gastric and colorectal cancer patients. | 0.002171535 | 2011 | HSPA5;GAPVD1 | 9 | 125241745 | T | C |
| rs391957 | 23818965 | 3309 | HSPA5 | umls:C1527249 | BeFree | These data provide the first evidence that GRP78 rs391957 and rs430397 polymorphisms could serve as markers to predict the risk of CRC. | 0.002171535 | 2013 | HSPA5;GAPVD1 | 9 | 125241745 | T | C |
| rs391957 | 23818965 | 3309 | HSPA5 | umls:C0009402 | BeFree | These data provide the first evidence that GRP78 rs391957 and rs430397 polymorphisms could serve as markers to predict the risk of CRC. | 0.002171535 | 2013 | HSPA5;GAPVD1 | 9 | 125241745 | T | C |
| rs397507444 | 12020105 | 875 | CBS | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.000814326 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17855693 | 4524 | MTHFR | umls:C1527249 | BeFree | Influence of methylenetetrahydrofolate reductase gene polymorphisms C677T and A1298C on age-associated risk for colorectal cancer in a caucasian lynch syndrome population. | 0.106872745 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 4524 | MTHFR | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.026329862 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 19669769 | 4524 | MTHFR | umls:C1527249 | BeFree | Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. | 0.106872745 | 2010 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 4524 | MTHFR | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.106872745 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 4552 | MTRR | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.035581425 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18804702 | 4524 | MTHFR | umls:C0009402 | BeFree | Certain common polymorphisms within the MTHFR gene (C677T, A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of cancers such as acute lymphocytic leukemia, lung and colorectal cancer. | 0.026329862 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17089070 | 4524 | MTHFR | umls:C1527249 | BeFree | Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis. | 0.106872745 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22719222 | 4548 | MTR | umls:C1527249 | BeFree | No significant association was found between MTHFR A1298C and MTR A2756G polymorphisms and the risk of CRC. | 0.042411079 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 20193847 | 4524 | MTHFR | umls:C1527249 | BeFree | We aimed to test the hypothesis that C677T and A1298C variants of MTHFR predispose to microsatellite instable (MSI) colorectal cancer. | 0.106872745 | 2010 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18804702 | 4524 | MTHFR | umls:C1527249 | BeFree | Certain common polymorphisms within the MTHFR gene (C677T, A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of cancers such as acute lymphocytic leukemia, lung and colorectal cancer. | 0.106872745 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 15546509 | 4524 | MTHFR | umls:C0009402 | BeFree | Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study. | 0.026329862 | 2004 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22719222 | 4548 | MTR | umls:C0009402 | BeFree | No significant association was found between MTHFR A1298C and MTR A2756G polymorphisms and the risk of CRC. | 0.002171535 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17089070 | 4524 | MTHFR | umls:C0009402 | BeFree | Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis. | 0.026329862 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 25292054 | 4524 | MTHFR | umls:C1527249 | BeFree | Methylenetetrahydrofolate reductase gene germ-line C677T and A1298C SNPs are associated with colorectal cancer risk in the Turkish population. | 0.106872745 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 20076818 | 4524 | MTHFR | umls:C0009402 | BeFree | C677T and A1298C mutations in the MTHFR gene and survival in colorectal cancer. | 0.026329862 | 2009 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17855693 | 4524 | MTHFR | umls:C0009402 | BeFree | Influence of methylenetetrahydrofolate reductase gene polymorphisms C677T and A1298C on age-associated risk for colorectal cancer in a caucasian lynch syndrome population. | 0.026329862 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 15546509 | 4524 | MTHFR | umls:C1527249 | BeFree | Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study. | 0.106872745 | 2004 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 875 | CBS | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.012920927 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 26111049 | 4524 | MTHFR | umls:C0009402 | BeFree | Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and fluorouracil-based treatment in Taiwan colorectal cancer. | 0.026329862 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 26111049 | 4524 | MTHFR | umls:C1527249 | BeFree | Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and fluorouracil-based treatment in Taiwan colorectal cancer. | 0.106872745 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 19669769 | 4524 | MTHFR | umls:C0009402 | BeFree | Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. | 0.026329862 | 2010 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 20193847 | 4524 | MTHFR | umls:C0009402 | BeFree | We aimed to test the hypothesis that C677T and A1298C variants of MTHFR predispose to microsatellite instable (MSI) colorectal cancer. | 0.026329862 | 2010 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 102724560 | LOC102724560 | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.000814326 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 20076818 | 4524 | MTHFR | umls:C1527249 | BeFree | C677T and A1298C mutations in the MTHFR gene and survival in colorectal cancer. | 0.106872745 | 2009 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 102724560 | LOC102724560 | umls:C1527249 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.001085767 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 12020105 | 4552 | MTRR | umls:C0009402 | BeFree | This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). | 0.002442977 | 2002 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 25292054 | 4524 | MTHFR | umls:C0009402 | BeFree | Methylenetetrahydrofolate reductase gene germ-line C677T and A1298C SNPs are associated with colorectal cancer risk in the Turkish population. | 0.026329862 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs406193 | 19843671 | 1789 | DNMT3B | umls:C0009402 | BeFree | The MTR 2756GG genotype was associated with increased colorectal cancer risk (incidence rate ratio, 1.58; P = 0.04), and inverse associations were observed among women carrying DNMT3b C-->T (rs406193; incidence rate ratio, 0.72; P = 0.04) or EHMT2 G-->A (rs535586; incidence rate ratio, 0.76; P = 0.05) polymorphisms. | 0.003257302 | 2009 | NA | 20 | 32811837 | T | C |
| rs406193 | 20960050 | 1789 | DNMT3B | umls:C1527249 | BeFree | Among 609 CRC cases and 1,663 subcohort members of the Netherlands Cohort Study on diet and cancer (n = 120,852), we estimated CRC risk according to methyl donor intake across genotypes of folate metabolizing enzymes and methyltransferases.Although diet-gene interactions were not statistically significant, methionine intake was inversely associated with CRC among subjects having both common rs2424913 and rs406193 DNMT3B C > T genotypes (highest versus lowest tertile: RR = 0.44; p (trend) = 0.05). | 0.01272543 | 2011 | NA | 20 | 32811837 | T | C |
| rs406193 | 19843671 | 1789 | DNMT3B | umls:C1527249 | BeFree | The MTR 2756GG genotype was associated with increased colorectal cancer risk (incidence rate ratio, 1.58; P = 0.04), and inverse associations were observed among women carrying DNMT3b C-->T (rs406193; incidence rate ratio, 0.72; P = 0.04) or EHMT2 G-->A (rs535586; incidence rate ratio, 0.76; P = 0.05) polymorphisms. | 0.01272543 | 2009 | NA | 20 | 32811837 | T | C |
| rs406193 | 20960050 | 1789 | DNMT3B | umls:C0009402 | BeFree | Among 609 CRC cases and 1,663 subcohort members of the Netherlands Cohort Study on diet and cancer (n = 120,852), we estimated CRC risk according to methyl donor intake across genotypes of folate metabolizing enzymes and methyltransferases.Although diet-gene interactions were not statistically significant, methionine intake was inversely associated with CRC among subjects having both common rs2424913 and rs406193 DNMT3B C > T genotypes (highest versus lowest tertile: RR = 0.44; p (trend) = 0.05). | 0.003257302 | 2011 | NA | 20 | 32811837 | T | C |
| rs4143094 | 24743840 | 2625 | GATA3 | umls:C1527249 | GWASCAT | Genome-wide diet-gene interaction analyses for risk of colorectal cancer. | 0.12 | 2014 | GATA3;LOC105376502 | 10 | 8047173 | T | G |
| rs419598 | 23192617 | 3552 | IL1A | umls:C1527249 | BeFree | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T>C (rs419598) cytokine polymorphisms are correlated with colorectal cancer. | 0.005819831 | 2013 | IL1RN | 2 | 113129630 | T | C |
| rs419598 | 23192617 | 3552 | IL1A | umls:C0009402 | BeFree | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T>C (rs419598) cytokine polymorphisms are correlated with colorectal cancer. | 0.001085767 | 2013 | IL1RN | 2 | 113129630 | T | C |
| rs430397 | 23818965 | 3309 | HSPA5 | umls:C0009402 | BeFree | These data provide the first evidence that GRP78 rs391957 and rs430397 polymorphisms could serve as markers to predict the risk of CRC. | 0.002171535 | 2013 | HSPA5 | 9 | 125238840 | C | T |
| rs430397 | 23818965 | 3309 | HSPA5 | umls:C1527249 | BeFree | These data provide the first evidence that GRP78 rs391957 and rs430397 polymorphisms could serve as markers to predict the risk of CRC. | 0.002171535 | 2013 | HSPA5 | 9 | 125238840 | C | T |
| rs4444235 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 25647270 | 652 | BMP4 | umls:C0009402 | BeFree | Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with increased CRC and CRA susceptibility, but these associations vary in different ethnic populations. | 0.003800186 | 2014 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22363440 | 9787 | DLGAP5 | umls:C0009402 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 19011631 | 652 | BMP4 | umls:C1527249 | GAD | [We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).] | 0.013268314 | 2008 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22158048 | 652 | BMP4 | umls:C0009402 | BeFree | Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 showed significantly increased expression of bone morphogenetic protein-4 (BMP4) associated with the risk allele (P<0.001). | 0.003800186 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 24932582 | 652 | BMP4 | umls:C1527249 | BeFree | The common variant rs4444235 near BMP4 confers genetic susceptibility of colorectal cancer: an updated meta-analysis based on a comprehensive statistical strategy. | 0.013268314 | 2014 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 25647270 | 652 | BMP4 | umls:C1527249 | BeFree | Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with increased CRC and CRA susceptibility, but these associations vary in different ethnic populations. | 0.013268314 | 2014 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22363440 | 9787 | DLGAP5 | umls:C1527249 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 24932582 | 652 | BMP4 | umls:C0009402 | BeFree | The common variant rs4444235 near BMP4 confers genetic susceptibility of colorectal cancer: an updated meta-analysis based on a comprehensive statistical strategy. | 0.003800186 | 2014 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22363440 | 509 | ATP5C1 | umls:C0009402 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22363440 | 509 | ATP5C1 | umls:C1527249 | BeFree | We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. | 0.000271442 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22158048 | 652 | BMP4 | umls:C1527249 | BeFree | Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 showed significantly increased expression of bone morphogenetic protein-4 (BMP4) associated with the risk allele (P<0.001). | 0.013268314 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 19011631 | 652 | BMP4 | umls:C1527249 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.013268314 | 2008 | NA | 14 | 53944201 | T | C |
| rs4444235 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | NA | 14 | 53944201 | T | C |
| rs4444235 | 19011631 | 652 | BMP4 | umls:C0009402 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.003800186 | 2008 | NA | 14 | 53944201 | T | C |
| rs4444903 | 21567271 | 1950 | EGF | umls:C1527249 | BeFree | Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population. | 0.026612573 | 2012 | EGF | 4 | 109912954 | A | G |
| rs4444903 | 21567271 | 1950 | EGF | umls:C0009402 | BeFree | Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population. | 0.010857675 | 2012 | EGF | 4 | 109912954 | A | G |
| rs4464148 | 21221812 | 4092 | SMAD7 | umls:C1527249 | BeFree | Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. | 0.162367471 | 2011 | SMAD7 | 18 | 48932662 | T | C |
| rs4464148 | 19357349 | 4092 | SMAD7 | umls:C0009402 | BeFree | Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. | 0.009229024 | 2009 | SMAD7 | 18 | 48932662 | T | C |
| rs4464148 | 21221812 | 4092 | SMAD7 | umls:C0009402 | BeFree | Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. | 0.009229024 | 2011 | SMAD7 | 18 | 48932662 | T | C |
| rs4464148 | 19357349 | 4092 | SMAD7 | umls:C1527249 | BeFree | Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. | 0.162367471 | 2009 | SMAD7 | 18 | 48932662 | T | C |
| rs459552 | 15824157 | 324 | APC | umls:C1527249 | BeFree | APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. | 0.24 | 2005 | APC | 5 | 112841059 | T | A |
| rs459552 | 15824157 | 324 | APC | umls:C0009402 | BeFree | APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. | 0.075732282 | 2005 | APC | 5 | 112841059 | T | A |
| rs459552 | 17556698 | 324 | APC | umls:C1527249 | BeFree | The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons. | 0.24 | 2007 | APC | 5 | 112841059 | T | A |
| rs459552 | 18343606 | 324 | APC | umls:C0009402 | BeFree | This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. | 0.075732282 | 2009 | APC | 5 | 112841059 | T | A |
| rs459552 | 18343606 | 324 | APC | umls:C1527249 | BeFree | This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. | 0.24 | 2009 | APC | 5 | 112841059 | T | A |
| rs459552 | 17556698 | 324 | APC | umls:C0009402 | BeFree | The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons. | 0.075732282 | 2007 | APC | 5 | 112841059 | T | A |
| rs4596 | 22581836 | 2965 | GTF2H1 | umls:C1527249 | BeFree | Rs7356 in RPA2 and rs4596 in GTF2H1 were associated with colorectal cancer risk. | 0.001085767 | 2012 | GTF2H1 | 11 | 18366581 | G | C |
| rs4596 | 22581836 | 84172 | POLR1B | umls:C0009402 | BeFree | Rs7356 in RPA2 and rs4596 in GTF2H1 were associated with colorectal cancer risk. | 0.000271442 | 2012 | GTF2H1 | 11 | 18366581 | G | C |
| rs4596 | 22581836 | 2965 | GTF2H1 | umls:C0009402 | BeFree | Rs7356 in RPA2 and rs4596 in GTF2H1 were associated with colorectal cancer risk. | 0.001357209 | 2012 | GTF2H1 | 11 | 18366581 | G | C |
| rs4596 | 22581836 | 84172 | POLR1B | umls:C1527249 | BeFree | Rs7356 in RPA2 and rs4596 in GTF2H1 were associated with colorectal cancer risk. | 0.000271442 | 2012 | GTF2H1 | 11 | 18366581 | G | C |
| rs4631962 | 24968322 | 894 | CCND2 | umls:C1527249 | BeFree | We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly associated with CRC risk in the Taiwanese population. | 0.120542884 | 2014 | CCND2-AS1 | 12 | 4263966 | A | G |
| rs4631962 | 24968322 | 894 | CCND2 | umls:C0009402 | BeFree | We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly associated with CRC risk in the Taiwanese population. | 0.000271442 | 2014 | CCND2-AS1 | 12 | 4263966 | A | G |
| rs4659744 | 20615890 | 4548 | MTR | umls:C0009402 | BeFree | These two linked (r(2) = 0.99) tagSNPs and one tagSNP in the MTR gene (rs4659744) were significantly associated with reduced colorectal cancer risk only among individuals not using multivitamin supplements. | 0.002171535 | 2010 | MTR | 1 | 236896158 | G | C |
| rs4659744 | 20615890 | 4548 | MTR | umls:C1527249 | BeFree | These two linked (r(2) = 0.99) tagSNPs and one tagSNP in the MTR gene (rs4659744) were significantly associated with reduced colorectal cancer risk only among individuals not using multivitamin supplements. | 0.042411079 | 2010 | MTR | 1 | 236896158 | G | C |
| rs4779584 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 21655089 | 26585 | GREM1 | umls:C0009402 | BeFree | Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). | 0.003257302 | 2011 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 18084292 | 6447 | SCG5 | umls:C0009402 | BeFree | In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10(-14)). | 0.000542884 | 2008 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 23875689 | 4092 | SMAD7 | umls:C1527249 | BeFree | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. | 0.162367471 | 2013 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 24586997 | 26585 | GREM1 | umls:C1527249 | BeFree | GREM1-SCG5 rs4779584 polymorphisms may increase the risk of developing colorectal cancer. | 0.125624334 | 2014 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 21655089 | 26585 | GREM1 | umls:C1527249 | BeFree | Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). | 0.125624334 | 2011 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 18084292 | 6447 | SCG5 | umls:C1527249 | BeFree | In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10(-14)). | 0.000542884 | 2008 | NA | 15 | 32702555 | T | C |
| rs4779584 | 24586997 | 26585 | GREM1 | umls:C0009402 | BeFree | GREM1-SCG5 rs4779584 polymorphisms may increase the risk of developing colorectal cancer. | 0.003257302 | 2014 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | NA | 15 | 32702555 | T | C |
| rs4779584 | 24586997 | 6447 | SCG5 | umls:C0009402 | BeFree | GREM1-SCG5 rs4779584 polymorphisms may increase the risk of developing colorectal cancer. | 0.000542884 | 2014 | NA | 15 | 32702555 | T | C |
| rs4779584 | 24586997 | 6447 | SCG5 | umls:C1527249 | BeFree | GREM1-SCG5 rs4779584 polymorphisms may increase the risk of developing colorectal cancer. | 0.000542884 | 2014 | NA | 15 | 32702555 | T | C |
| rs4779584 | 23875689 | 4092 | SMAD7 | umls:C0009402 | BeFree | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. | 0.009229024 | 2013 | NA | 15 | 32702555 | T | C |
| rs4779584 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | NA | 15 | 32702555 | T | C |
| rs4813802 | 21655089 | 652 | BMP4 | umls:C0009402 | BeFree | We identified new, independent CRC predisposition SNPs close to BMP4 (rs1957636, P = 3.93×10(-10)) and BMP2 (rs4813802, P = 4.65×10(-11)). | 0.003800186 | 2011 | NA | 20 | 6718948 | T | G |
| rs4813802 | 21655089 | 652 | BMP4 | umls:C1527249 | BeFree | We identified new, independent CRC predisposition SNPs close to BMP4 (rs1957636, P = 3.93×10(-10)) and BMP2 (rs4813802, P = 4.65×10(-11)). | 0.013268314 | 2011 | NA | 20 | 6718948 | T | G |
| rs4848306 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | NA | 2 | 112840530 | G | A |
| rs4848306 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | NA | 2 | 112840530 | G | A |
| rs4849303 | 24743840 | 55289 | ACOXL | umls:C1527249 | GWASCAT | Genome-wide diet-gene interaction analyses for risk of colorectal cancer. | 0.12 | 2014 | ACOXL | 2 | 110970905 | C | T |
| rs486907 | 16054567 | 6041 | RNASEL | umls:C0009402 | BeFree | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. | 0.000814326 | 2005 | RNASEL | 1 | 182585422 | C | T |
| rs486907 | 17224235 | 7157 | TP53 | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.16 | 2007 | RNASEL | 1 | 182585422 | C | T |
| rs486907 | 17224235 | 6041 | RNASEL | umls:C1527249 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.003181358 | 2007 | RNASEL | 1 | 182585422 | C | T |
| rs486907 | 17224235 | 6041 | RNASEL | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.000814326 | 2007 | RNASEL | 1 | 182585422 | C | T |
| rs486907 | 16054567 | 6041 | RNASEL | umls:C1527249 | BeFree | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. | 0.003181358 | 2005 | RNASEL | 1 | 182585422 | C | T |
| rs486907 | 17224235 | 7157 | TP53 | umls:C0009402 | BeFree | We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. | 0.084734064 | 2007 | RNASEL | 1 | 182585422 | C | T |
| rs4919510 | 22606253 | 693193 | MIR608 | umls:C0009402 | BeFree | rs4919510 in hsa-mir-608 is associated with outcome but not risk of colorectal cancer. | 0.000814326 | 2012 | SEMA4G;MIR608 | 10 | 100975021 | C | G |
| rs4919510 | 22606253 | 693193 | MIR608 | umls:C1527249 | BeFree | rs4919510 in hsa-mir-608 is associated with outcome but not risk of colorectal cancer. | 0.000814326 | 2012 | SEMA4G;MIR608 | 10 | 100975021 | C | G |
| rs4925386 | 20972440 | 3911 | LAMA5 | umls:C1527249 | GWASCAT | Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. | 0.120271442 | 2010 | LAMA5 | 20 | 62345988 | T | C |
| rs4938723 | 23183747 | 7157 | TP53 | umls:C1527249 | BeFree | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. | 0.16 | 2013 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs4938723 | 23183747 | 7157 | TP53 | umls:C0009402 | BeFree | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. | 0.084734064 | 2013 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs4939827 | 19357349 | 4092 | SMAD7 | umls:C0009402 | BeFree | Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. | 0.009229024 | 2009 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 21242260 | 4092 | SMAD7 | umls:C1527249 | BeFree | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. | 0.162367471 | 2011 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 17934461 | 4092 | SMAD7 | umls:C1527249 | GWASCAT | A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. | 0.162367471 | 2007 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 24066093 | 4092 | SMAD7 | umls:C1527249 | BeFree | SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population. | 0.162367471 | 2013 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 24066093 | 4092 | SMAD7 | umls:C0009402 | BeFree | SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population. | 0.009229024 | 2013 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 21761138 | 4092 | SMAD7 | umls:C1527249 | GWASCAT | Meta-analysis of new genome-wide association studies of colorectal cancer risk. | 0.162367471 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 23266556 | 4092 | SMAD7 | umls:C1527249 | GWASCAT | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | 0.162367471 | 2013 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 17934461 | 4092 | SMAD7 | umls:C1527249 | GAD | [A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.] | 0.162367471 | 2007 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 23875689 | 4092 | SMAD7 | umls:C1527249 | BeFree | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. | 0.162367471 | 2013 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 19357349 | 4092 | SMAD7 | umls:C1527249 | BeFree | Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. | 0.162367471 | 2009 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 21242260 | 4092 | SMAD7 | umls:C0009402 | BeFree | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. | 0.009229024 | 2011 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 23875689 | 4092 | SMAD7 | umls:C0009402 | BeFree | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. | 0.009229024 | 2013 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 21221812 | 4092 | SMAD7 | umls:C1527249 | BeFree | Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. | 0.162367471 | 2011 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 21221812 | 4092 | SMAD7 | umls:C0009402 | BeFree | Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. | 0.009229024 | 2011 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 18372901 | 4092 | SMAD7 | umls:C1527249 | GWASCAT | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. | 0.162367471 | 2008 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4939827 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | SMAD7 | 18 | 48927093 | T | C |
| rs4948317 | 24836286 | 80114 | BICC1 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | BICC1 | 10 | 58811675 | C | T |
| rs4986790 | 23949880 | 7099 | TLR4 | umls:C0009402 | BeFree | Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer patients with advanced stage and lymph node metastasis. | 0.00434307 | 2013 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 16879199 | 7099 | TLR4 | umls:C0009402 | BeFree | In conclusion, we report an association of microsatelite GT polymorphisms of TLR2 gene and Asp299Gly polymorphism of the TLR4 gene with sporadic colorectal cancer among Croatians. | 0.00434307 | 2006 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3553 | IL1B | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.017459494 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 16879199 | 7099 | TLR4 | umls:C1527249 | BeFree | In conclusion, we report an association of microsatelite GT polymorphisms of TLR2 gene and Asp299Gly polymorphism of the TLR4 gene with sporadic colorectal cancer among Croatians. | 0.008262808 | 2006 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 6647 | SOD1 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001628651 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 6647 | SOD1 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001357209 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 7099 | TLR4 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.008262808 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3586 | IL10 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.012801375 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3553 | IL1B | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003257302 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 23949880 | 7099 | TLR4 | umls:C1527249 | BeFree | Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer patients with advanced stage and lymph node metastasis. | 0.008262808 | 2013 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3605 | IL17A | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005428837 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 7099 | TLR4 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.00434307 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3586 | IL10 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005971721 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3605 | IL17A | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005700279 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 24446182 | 3605 | IL17A | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005700279 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 3586 | IL10 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005971721 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 23949880 | 7099 | TLR4 | umls:C0009402 | BeFree | Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer patients with advanced stage and lymph node metastasis. | 0.00434307 | 2013 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 7099 | TLR4 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.00434307 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 3553 | IL1B | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003257302 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 7099 | TLR4 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.008262808 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 6647 | SOD1 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001357209 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 3605 | IL17A | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005428837 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 6647 | SOD1 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001628651 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 3553 | IL1B | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.017459494 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 23949880 | 7099 | TLR4 | umls:C1527249 | BeFree | Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer patients with advanced stage and lymph node metastasis. | 0.008262808 | 2013 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 3586 | IL10 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.012801375 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4988453 | 24154872 | 4615 | MYD88 | umls:C1527249 | BeFree | MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. | 0.001085767 | 2014 | ACAA1;MYD88 | 3 | 38137763 | C | A |
| rs4988453 | 24154872 | 4615 | MYD88 | umls:C0009402 | BeFree | MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. | 0.001085767 | 2014 | ACAA1;MYD88 | 3 | 38137763 | C | A |
| rs4988453 | 24154872 | 30 | ACAA1 | umls:C0009402 | BeFree | MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. | 0.000271442 | 2014 | ACAA1;MYD88 | 3 | 38137763 | C | A |
| rs4988453 | 24154872 | 30 | ACAA1 | umls:C1527249 | BeFree | MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. | 0.000271442 | 2014 | ACAA1;MYD88 | 3 | 38137763 | C | A |
| rs4998557 | 24446182 | 6647 | SOD1 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001357209 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3553 | IL1B | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.017459494 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3605 | IL17A | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005700279 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 7099 | TLR4 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.00434307 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 6647 | SOD1 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001628651 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3586 | IL10 | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005971721 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3553 | IL1B | umls:C0009402 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003257302 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3605 | IL17A | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.005428837 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 7099 | TLR4 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.008262808 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3586 | IL10 | umls:C1527249 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.012801375 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs5219 | 21602532 | 221895 | JAZF1 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 8549 | LGR5 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004614512 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 221895 | JAZF1 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 3767 | KCNJ11 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 7103 | TSPAN8 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 3767 | KCNJ11 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 8549 | LGR5 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004885954 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 21602532 | 7103 | TSPAN8 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | KCNJ11 | 11 | 17388025 | T | C |
| rs5275 | 23531863 | 5743 | PTGS2 | umls:C0009402 | BeFree | An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition. | 0.051302514 | 2013 | PTGS2 | 1 | 186673926 | A | G |
| rs5275 | 23531863 | 5743 | PTGS2 | umls:C1527249 | BeFree | An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition. | 0.094180531 | 2013 | PTGS2 | 1 | 186673926 | A | G |
| rs5275 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | PTGS2 | 1 | 186673926 | A | G |
| rs5275 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | PTGS2 | 1 | 186673926 | A | G |
| rs5277 | 24870748 | 5743 | PTGS2 | umls:C0009402 | BeFree | The prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/ COX2) rs5277 polymorphism does not influence risk of colorectal cancer in an Iranian population. | 0.051302514 | 2015 | PTGS2;PACERR | 1 | 186679065 | C | T,G |
| rs5277 | 24870748 | 5743 | PTGS2 | umls:C1527249 | BeFree | The prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/ COX2) rs5277 polymorphism does not influence risk of colorectal cancer in an Iranian population. | 0.094180531 | 2015 | PTGS2;PACERR | 1 | 186679065 | C | T,G |
| rs535586 | 19843671 | 1789 | DNMT3B | umls:C0009402 | BeFree | The MTR 2756GG genotype was associated with increased colorectal cancer risk (incidence rate ratio, 1.58; P = 0.04), and inverse associations were observed among women carrying DNMT3b C-->T (rs406193; incidence rate ratio, 0.72; P = 0.04) or EHMT2 G-->A (rs535586; incidence rate ratio, 0.76; P = 0.05) polymorphisms. | 0.003257302 | 2009 | EHMT2 | 6 | 31892560 | T | C |
| rs535586 | 19843671 | 1789 | DNMT3B | umls:C1527249 | BeFree | The MTR 2756GG genotype was associated with increased colorectal cancer risk (incidence rate ratio, 1.58; P = 0.04), and inverse associations were observed among women carrying DNMT3b C-->T (rs406193; incidence rate ratio, 0.72; P = 0.04) or EHMT2 G-->A (rs535586; incidence rate ratio, 0.76; P = 0.05) polymorphisms. | 0.01272543 | 2009 | EHMT2 | 6 | 31892560 | T | C |
| rs5498 | 16937502 | 3576 | CXCL8 | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.006786047 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 19822019 | 3383 | ICAM1 | umls:C0009402 | BeFree | Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation of colorectal cancer. | 0.002171535 | 2009 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 19822019 | 3383 | ICAM1 | umls:C1527249 | BeFree | Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation of colorectal cancer. | 0.006905599 | 2009 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16937502 | 3576 | CXCL8 | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.025722303 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16937502 | 5468 | PPARG | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16937502 | 7124 | TNF | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.036623585 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16937502 | 5468 | PPARG | umls:C1527249 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.038990617 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16937502 | 7124 | TNF | umls:C0009402 | BeFree | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A), ICAM-1 (R241G and K469E), and PPARgamma (Pro12Ala) genes and the risk of CRC. | 0.011129117 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs56053615 | 15449173 | 4968 | OGG1 | umls:C1527249 | BeFree | Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients. | 0.029642041 | 2004 | OGG1 | 3 | 9751845 | G | A,T |
| rs56053615 | 15449173 | 4968 | OGG1 | umls:C0009402 | BeFree | Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients. | 0.006243163 | 2004 | OGG1 | 3 | 9751845 | G | A,T |
| rs5788 | 18992148 | 5742 | PTGS1 | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.010901282 | 2008 | PTGS1 | 9 | 122381513 | C | A |
| rs5788 | 18992148 | 4524 | MTHFR | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.106872745 | 2008 | PTGS1 | 9 | 122381513 | C | A |
| rs5788 | 18992148 | 3576 | CXCL8 | umls:C1527249 | BeFree | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). | 0.025722303 | 2008 | PTGS1 | 9 | 122381513 | C | A |
| rs59336 | 23266556 | 6926 | TBX3 | umls:C1527249 | GWASCAT | We also provided evidence for an association between colorectal tumor risk and polymorphisms in laminin gamma 1 (this is the second gene in the laminin family to be associated with colorectal cancers), cyclin D2 (which encodes for cyclin D2), and T-box 3 (which encodes a T-box transcription factor and is a target of Wnt signaling to β-catenin). | 0.120271442 | 2013 | TBX3 | 12 | 114678547 | T | A |
| rs5985 | 21422408 | 2147 | F2 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.005276948 | 2011 | F13A1 | 6 | 6318562 | C | T,A |
| rs5985 | 21422408 | 4524 | MTHFR | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.026329862 | 2011 | F13A1 | 6 | 6318562 | C | T,A |
| rs5985 | 21422408 | 5054 | SERPINE1 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.004071628 | 2011 | F13A1 | 6 | 6318562 | C | T,A |
| rs5985 | 21422408 | 4524 | MTHFR | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.106872745 | 2011 | F13A1 | 6 | 6318562 | C | T,A |
| rs5985 | 21422408 | 5054 | SERPINE1 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.010901282 | 2011 | F13A1 | 6 | 6318562 | C | T,A |
| rs5985 | 21422408 | 2147 | F2 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.000542884 | 2011 | F13A1 | 6 | 6318562 | C | T,A |
| rs6022990 | 24562971 | 1591 | CYP24A1 | umls:C1527249 | BeFree | Two SNPs, rs16847024 in the GC gene and rs6022990 in the CYP24A1 gene, were nominally associated with left-sided CRC (p = 0.015 and p = 0.018, respectively). | 0.001628651 | 2014 | CYP24A1 | 20 | 54158993 | A | G |
| rs6022990 | 24562971 | 1591 | CYP24A1 | umls:C0009402 | BeFree | Two SNPs, rs16847024 in the GC gene and rs6022990 in the CYP24A1 gene, were nominally associated with left-sided CRC (p = 0.015 and p = 0.018, respectively). | 0.001628651 | 2014 | CYP24A1 | 20 | 54158993 | A | G |
| rs6025 | 21422408 | 5054 | SERPINE1 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.004071628 | 2011 | F5 | 1 | 169549811 | C | T |
| rs6025 | 21422408 | 2147 | F2 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.005276948 | 2011 | F5 | 1 | 169549811 | C | T |
| rs6025 | 21422408 | 4524 | MTHFR | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.026329862 | 2011 | F5 | 1 | 169549811 | C | T |
| rs6025 | 21422408 | 5054 | SERPINE1 | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.010901282 | 2011 | F5 | 1 | 169549811 | C | T |
| rs6025 | 21422408 | 4524 | MTHFR | umls:C1527249 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.106872745 | 2011 | F5 | 1 | 169549811 | C | T |
| rs6025 | 21422408 | 2147 | F2 | umls:C0009402 | BeFree | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study. | 0.000542884 | 2011 | F5 | 1 | 169549811 | C | T |
| rs6038071 | 20610541 | 53904 | MYO3A | umls:C1527249 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.002638474 | 2010 | NA | 20 | 584433 | C | T |
| rs6038071 | 20610541 | 1459 | CSNK2A2 | umls:C0009402 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000542884 | 2010 | NA | 20 | 584433 | C | T |
| rs6038071 | 20610541 | 53904 | MYO3A | umls:C0009402 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000271442 | 2010 | NA | 20 | 584433 | C | T |
| rs6038071 | 20610541 | 1457 | CSNK2A1 | umls:C1527249 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.002909916 | 2010 | NA | 20 | 584433 | C | T |
| rs6038071 | 20610541 | 1459 | CSNK2A2 | umls:C1527249 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000542884 | 2010 | NA | 20 | 584433 | C | T |
| rs6038071 | 20610541 | 1457 | CSNK2A1 | umls:C0009402 | BeFree | Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). | 0.000814326 | 2010 | NA | 20 | 584433 | C | T |
| rs61764370 | 24282149 | 3845 | KRAS | umls:C1527249 | BeFree | Using site-specific homologous recombination, we inserted the rs61764370:T>G KRAS gene variant in the colorectal cancer cell line SW48 (SW48 +SNP) and assessed the cellular and biochemical phenotype. | 0.16 | 2013 | KRAS | 12 | 25207290 | A | C |
| rs61764370 | 24282149 | 3845 | KRAS | umls:C0009402 | BeFree | Using site-specific homologous recombination, we inserted the rs61764370:T>G KRAS gene variant in the colorectal cancer cell line SW48 (SW48 +SNP) and assessed the cellular and biochemical phenotype. | 0.082367032 | 2013 | KRAS | 12 | 25207290 | A | C |
| rs61886492 | 15122597 | 2346 | FOLH1 | umls:C0009402 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.001085767 | 2004 | FOLH1 | 11 | 49164722 | G | A |
| rs61886492 | 15122597 | 2346 | FOLH1 | umls:C1527249 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.008186863 | 2004 | FOLH1 | 11 | 49164722 | G | A |
| rs61886492 | 15122597 | 4522 | MTHFD1 | umls:C0009402 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.000814326 | 2004 | FOLH1 | 11 | 49164722 | G | A |
| rs61886492 | 15122597 | 4522 | MTHFD1 | umls:C1527249 | BeFree | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. | 0.015016517 | 2004 | FOLH1 | 11 | 49164722 | G | A |
| rs63750447 | 9526167 | 4292 | MLH1 | umls:C0009402 | BeFree | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals. | 0.082367032 | 1998 | MLH1 | 3 | 37025749 | T | A |
| rs63750447 | 9526167 | 4436 | MSH2 | umls:C0009402 | BeFree | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals. | 0.063245956 | 1998 | MLH1 | 3 | 37025749 | T | A |
| rs63750447 | 9526167 | 4292 | MLH1 | umls:C1527249 | BeFree | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals. | 0.16 | 1998 | MLH1 | 3 | 37025749 | T | A |
| rs63750447 | 9526167 | 4436 | MSH2 | umls:C1527249 | BeFree | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals. | 0.14378884 | 1998 | MLH1 | 3 | 37025749 | T | A |
| rs63750875 | 17414604 | 4436 | MSH2 | umls:C1527249 | BeFree | Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. | 0.14378884 | 2007 | MSH2 | 2 | 47475171 | G | C |
| rs63750875 | 17414604 | 4436 | MSH2 | umls:C0009402 | BeFree | Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. | 0.063245956 | 2007 | MSH2 | 2 | 47475171 | G | C |
| rs63750875 | 18674656 | 4436 | MSH2 | umls:C1527249 | BeFree | Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer. | 0.14378884 | 2008 | MSH2 | 2 | 47475171 | G | C |
| rs63750875 | 18674656 | 4436 | MSH2 | umls:C0009402 | BeFree | Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer. | 0.063245956 | 2008 | MSH2 | 2 | 47475171 | G | C |
| rs63751310 | 20167975 | 4292 | MLH1 | umls:C1527249 | BeFree | R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family. | 0.16 | 2010 | MLH1 | 3 | 37048595 | C | T |
| rs63751310 | 20167975 | 4292 | MLH1 | umls:C0009402 | BeFree | R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family. | 0.082367032 | 2010 | MLH1 | 3 | 37048595 | C | T |
| rs6464211 | 24706189 | 58508 | KMT2C | umls:C1527249 | BeFree | The strongest association with CRC risk and survival was found for MLL3 (rs6464211, OR 1.50, p = 0.002, dominant model; HR 2.12, p = 0.020, recessive model). | 0.000814326 | 2014 | KMT2C | 7 | 152176768 | C | T |
| rs6464211 | 24706189 | 58508 | KMT2C | umls:C0009402 | BeFree | The strongest association with CRC risk and survival was found for MLL3 (rs6464211, OR 1.50, p = 0.002, dominant model; HR 2.12, p = 0.020, recessive model). | 0.000542884 | 2014 | KMT2C | 7 | 152176768 | C | T |
| rs647161 | 23263487 | 100996485 | C5orf66 | umls:C1527249 | GWASCAT | Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. | 0.12 | 2013 | C5orf66 | 5 | 135163402 | C | A |
| rs647161 | 24836286 | 100996485 | C5orf66 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | C5orf66 | 5 | 135163402 | C | A |
| rs6498486 | 24861646 | 2072 | ERCC4 | umls:C1527249 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.00554839 | 2014 | ERCC4;LOC105371093 | 16 | 13919809 | A | C |
| rs6498486 | 24861646 | 2072 | ERCC4 | umls:C0009402 | BeFree | We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. | 0.000814326 | 2014 | ERCC4;LOC105371093 | 16 | 13919809 | A | C |
| rs662 | 25684529 | 5444 | PON1 | umls:C0009402 | BeFree | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer and effect of surgical intervention. | 0.000542884 | 2015 | PON1 | 7 | 95308134 | T | C |
| rs662 | 25684529 | 5444 | PON1 | umls:C1527249 | BeFree | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer and effect of surgical intervention. | 0.002909916 | 2015 | PON1 | 7 | 95308134 | T | C |
| rs671 | 19706845 | 217 | ALDH2 | umls:C0009402 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.003528744 | 2009 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 19706845 | 217 | ALDH2 | umls:C1527249 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.024832032 | 2009 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 19706845 | 1571 | CYP2E1 | umls:C1527249 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.042487023 | 2009 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 19706845 | 1571 | CYP2E1 | umls:C0009402 | BeFree | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. | 0.004071628 | 2009 | ALDH2 | 12 | 111803962 | G | A |
| rs6728940 | 24822274 | 54575 | UGT1A10 | umls:C0009402 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | MROH2A | 2 | 233780518 | G | A |
| rs6728940 | 24822274 | 54575 | UGT1A10 | umls:C1527249 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | MROH2A | 2 | 233780518 | G | A |
| rs67491583 | 22429595 | 4609 | MYC | umls:C0009402 | BeFree | Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583. | 0.011596056 | 2012 | CASC8;CCAT2 | 8 | 127401987 | GA | - |
| rs67491583 | 22429595 | 4609 | MYC | umls:C1527249 | BeFree | Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583. | 0.011324614 | 2012 | CASC8;CCAT2 | 8 | 127401987 | GA | - |
| rs689466 | 24194923 | 3586 | IL10 | umls:C1527249 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.012801375 | 2013 | PTGS2;PACERR | 1 | 186681619 | T | C |
| rs689466 | 24194923 | 3586 | IL10 | umls:C0009402 | BeFree | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs1143623), T-31C (rs1143627) and PTGS2 (encoding COX-2) A-1195G (rs689466), G-765C (rs20417), and T8473C (rs5275) were assessed in relation to risk of colorectal cancer (CRC) and interaction with diet (red meat, fish, fibre, cereals, fruit and vegetables) and lifestyle (non-steroid-anti-inflammatory drug use and smoking status) was assessed in a nested case-cohort study of nine hundred and seventy CRC cases and 1789 randomly selected participants from a prospective study of 57,053 persons. | 0.005971721 | 2013 | PTGS2;PACERR | 1 | 186681619 | T | C |
| rs6964587 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 17000706 | 10142 | AKAP9 | umls:C0009402 | BeFree | One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for multiple testing. | 0.000542884 | 2006 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 17000706 | 10142 | AKAP9 | umls:C1527249 | BeFree | One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for multiple testing. | 0.002909916 | 2006 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6964587 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | AKAP9 | 7 | 92001306 | G | T |
| rs6983267 | 24889212 | 3586 | IL10 | umls:C0009402 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.005971721 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22429595 | 6934 | TCF7L2 | umls:C0009402 | BeFree | In our previous work, we showed that the colorectal cancer (CRC) risk variant rs6983267 at 8q24 resides within a TCF4 binding site at the MYC-335 enhancer, with the risk allele G having a stronger binding capacity and Wnt responsiveness. | 0.011400559 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 21242260 | 101805488 | CCAT2 | umls:C1527249 | GWASCAT | Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. | 0.120271442 | 2011 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24317174 | 6934 | TCF7L2 | umls:C0009402 | BeFree | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus that affects binding activity of transcription factor 7 like-2 (TCF7L2) to CTNNB1, thereby altering expression of target oncogenes, including MYC. | 0.011400559 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24889212 | 4609 | MYC | umls:C0009402 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.011596056 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24889212 | 4609 | MYC | umls:C1527249 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.011324614 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22976378 | 4609 | MYC | umls:C0009402 | BeFree | The rs6983267 SNP is associated with MYC transcription efficiency, which promotes progression and worsens prognosis of colorectal cancer. | 0.011596056 | 2013 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 25315430 | 5462 | POU5F1B | umls:C1527249 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000271442 | 2015 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24836286 | 101805488 | CCAT2 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.120271442 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 20696899 | 4609 | MYC | umls:C1527249 | BeFree | A region spanning the single nucleotide polymorphism rs6983267, which lies within a MYC enhancer and confers colorectal cancer risk in humans, represented one of many co-occupied sites. | 0.011324614 | 2010 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24317174 | 4609 | MYC | umls:C1527249 | BeFree | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus that affects binding activity of transcription factor 7 like-2 (TCF7L2) to CTNNB1, thereby altering expression of target oncogenes, including MYC. | 0.011324614 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 18372905 | 101805488 | CCAT2 | umls:C1527249 | GWASCAT | A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. | 0.120271442 | 2008 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 21567271 | 1950 | EGF | umls:C1527249 | BeFree | Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population. | 0.026612573 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 25315430 | 5462 | POU5F1B | umls:C0009402 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000271442 | 2015 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 21567271 | 1950 | EGF | umls:C0009402 | BeFree | Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population. | 0.010857675 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24889212 | 3586 | IL10 | umls:C1527249 | BeFree | We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription factor involved in cell cycle progression, apoptosis and cellular transformation) and NSAIDs interacted with rs3024505 and rs1800872 in or close to IL10 (encoding IL-10) in preventing CRC. | 0.012801375 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22976378 | 4609 | MYC | umls:C1527249 | BeFree | The rs6983267 SNP is associated with MYC transcription efficiency, which promotes progression and worsens prognosis of colorectal cancer. | 0.011324614 | 2013 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 25315430 | 101867536 | PRNCR1 | umls:C0009402 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000542884 | 2015 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 25315430 | 101867536 | PRNCR1 | umls:C1527249 | BeFree | These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). | 0.000542884 | 2015 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 20696899 | 4609 | MYC | umls:C0009402 | BeFree | A region spanning the single nucleotide polymorphism rs6983267, which lies within a MYC enhancer and confers colorectal cancer risk in humans, represented one of many co-occupied sites. | 0.011596056 | 2010 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24317174 | 4609 | MYC | umls:C0009402 | BeFree | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus that affects binding activity of transcription factor 7 like-2 (TCF7L2) to CTNNB1, thereby altering expression of target oncogenes, including MYC. | 0.011596056 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 21242260 | 4092 | SMAD7 | umls:C0009402 | BeFree | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. | 0.009229024 | 2011 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24317174 | 1499 | CTNNB1 | umls:C0009402 | BeFree | Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations. | 0.010586233 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 19561607 | 4609 | MYC | umls:C0009402 | BeFree | The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. | 0.011596056 | 2009 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 17618284 | 101805488 | CCAT2 | umls:C1527249 | GWASCAT | A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. | 0.120271442 | 2007 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 21242260 | 4092 | SMAD7 | umls:C1527249 | BeFree | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. | 0.162367471 | 2011 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 23266556 | 101805488 | CCAT2 | umls:C1527249 | GWASCAT | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | 0.120271442 | 2013 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22429595 | 6934 | TCF7L2 | umls:C1527249 | BeFree | In our previous work, we showed that the colorectal cancer (CRC) risk variant rs6983267 at 8q24 resides within a TCF4 binding site at the MYC-335 enhancer, with the risk allele G having a stronger binding capacity and Wnt responsiveness. | 0.135863181 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 19561607 | 4609 | MYC | umls:C1527249 | BeFree | The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. | 0.011324614 | 2009 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24317174 | 6934 | TCF7L2 | umls:C1527249 | BeFree | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus that affects binding activity of transcription factor 7 like-2 (TCF7L2) to CTNNB1, thereby altering expression of target oncogenes, including MYC. | 0.135863181 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs6983267 | 24317174 | 1499 | CTNNB1 | umls:C1527249 | BeFree | Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations. | 0.142149951 | 2014 | CASC8;CCAT2 | 8 | 127401060 | G | T |
| rs704017 | 24836286 | 283050 | ZMIZ1-AS1 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.12 | 2014 | ZMIZ1-AS1 | 10 | 79059375 | A | G |
| rs709805 | 22282400 | 23199 | GSE1 | umls:C1527249 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | GSE1 | 16 | 85672958 | G | A |
| rs709805 | 22282400 | 23199 | GSE1 | umls:C0009402 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | GSE1 | 16 | 85672958 | G | A |
| rs709805 | 22282400 | 23225 | NUP210 | umls:C0009402 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | GSE1 | 16 | 85672958 | G | A |
| rs709805 | 22282400 | 23225 | NUP210 | umls:C1527249 | BeFree | Statistically significant associations were found between the risk of CRC and the variant alleles of KIAA0182 (rs709805) (odds ratio = 1.57; 95% confidence interval = 1.06-2.78, for the variant homozygotes) and NUP210 genes (rs354476) (odds ratio = 1.36; 95% confidence interval = 1.02-1.82, for the variant homozygotes). | 0.000271442 | 2012 | GSE1 | 16 | 85672958 | G | A |
| rs712 | 23975373 | 3845 | KRAS | umls:C0009402 | BeFree | A let-7 KRAS rs712 polymorphism increases colorectal cancer risk. | 0.082367032 | 2013 | KRAS | 12 | 25209618 | A | C |
| rs712 | 23975373 | 3845 | KRAS | umls:C1527249 | BeFree | A let-7 KRAS rs712 polymorphism increases colorectal cancer risk. | 0.16 | 2013 | KRAS | 12 | 25209618 | A | C |
| rs7121 | 16467086 | 2778 | GNAS | umls:C0009402 | BeFree | We have recently shown that TT genotypes of the GNAS1 T393C polymorphism display increased transcription of Galphas and a more favorable clinical course in bladder and colorectal cancer patients compared both with TC or CC genotypes. | 0.001628651 | 2006 | GNAS | 20 | 58903752 | C | T |
| rs7121 | 16467086 | 2778 | GNAS | umls:C1527249 | BeFree | We have recently shown that TT genotypes of the GNAS1 T393C polymorphism display increased transcription of Galphas and a more favorable clinical course in bladder and colorectal cancer patients compared both with TC or CC genotypes. | 0.003452799 | 2006 | GNAS | 20 | 58903752 | C | T |
| rs7121 | 16033819 | 2778 | GNAS | umls:C0009402 | BeFree | GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer. | 0.001628651 | 2005 | GNAS | 20 | 58903752 | C | T |
| rs7121 | 17186357 | 2778 | GNAS | umls:C0009402 | BeFree | We have recently shown that genotypes of the single nucleotide polymorphism (SNP) T393C in the gene GNAS1 are associated with survival of patients suffering from bladder, renal cell and colorectal carcinoma. | 0.001628651 | 2007 | GNAS | 20 | 58903752 | C | T |
| rs7121 | 16033819 | 2778 | GNAS | umls:C1527249 | BeFree | GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer. | 0.003452799 | 2005 | GNAS | 20 | 58903752 | C | T |
| rs7130173 | 24256810 | 341032 | C11orf53 | umls:C0009402 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.000271442 | 2014 | C11orf53 | 11 | 111283347 | A | C |
| rs7130173 | 24256810 | 120376 | COLCA2 | umls:C0009402 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.001085767 | 2014 | C11orf53 | 11 | 111283347 | A | C |
| rs7130173 | 24256810 | 399948 | COLCA1 | umls:C0009402 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.000542884 | 2014 | C11orf53 | 11 | 111283347 | A | C |
| rs7130173 | 24256810 | 120376 | COLCA2 | umls:C1527249 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.121085767 | 2014 | C11orf53 | 11 | 111283347 | A | C |
| rs7130173 | 24256810 | 341032 | C11orf53 | umls:C1527249 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.002638474 | 2014 | C11orf53 | 11 | 111283347 | A | C |
| rs7130173 | 24256810 | 399948 | COLCA1 | umls:C1527249 | BeFree | These data imply that rs10891246 and rs7130173 are functional SNPs mapping to 11q23.1 and that C11orf53, C11orf92 and C11orf93 represent novel candidate target genes involved in CRC etiology. | 0.125276948 | 2014 | C11orf53 | 11 | 111283347 | A | C |
| rs719725 | 21952639 | 115426 | UHRF2 | umls:C1527249 | BeFree | Furthermore, NIRF is immediately adjacent to the single nucleotide polymorphism rs719725, which is reportedly associated with the risk of colorectal cancer. | 0.000542884 | 2011 | NA | 9 | 6365683 | A | C |
| rs719725 | 21952639 | 115426 | UHRF2 | umls:C0009402 | BeFree | Furthermore, NIRF is immediately adjacent to the single nucleotide polymorphism rs719725, which is reportedly associated with the risk of colorectal cancer. | 0.000542884 | 2011 | NA | 9 | 6365683 | A | C |
| rs7229639 | 24448986 | 4092 | SMAD7 | umls:C1527249 | GWASCAT | Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians. | 0.162367471 | 2013 | SMAD7 | 18 | 48924606 | A | G |
| rs7229639 | 24836286 | 4092 | SMAD7 | umls:C1527249 | GWASCAT | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | 0.162367471 | 2014 | SMAD7 | 18 | 48924606 | A | G |
| rs731236 | 24075799 | 1045 | CDX2 | umls:C0009402 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.012214884 | 2013 | VDR;LOC105369749 | 12 | 47844974 | A | G |
| rs731236 | 24075799 | 1045 | CDX2 | umls:C1527249 | BeFree | Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortality (336 events) were estimated for VDR variants rs731236 (TaqI), rs2228570 (FokI), rs11568820 (Cdx2), and rs1989969 (VDR-5132). | 0.013496149 | 2013 | VDR;LOC105369749 | 12 | 47844974 | A | G |
| rs73376930 | 24737748 | 26585 | GREM1 | umls:C1527249 | GWASCAT | Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. | 0.125624334 | 2015 | GREM1;LOC100131315 | 15 | 32720301 | A | G |
| rs73376930 | 24737748 | 100131315 | LOC100131315 | umls:C1527249 | GWASCAT | Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. | 0.12 | 2015 | GREM1;LOC100131315 | 15 | 32720301 | A | G |
| rs743554 | 22939228 | 5894 | RAF1 | umls:C1527249 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.003800186 | 2012 | GALK1;ITGB4 | 17 | 75758167 | G | A |
| rs743554 | 22939228 | 3691 | ITGB4 | umls:C0009402 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.000542884 | 2012 | GALK1;ITGB4 | 17 | 75758167 | G | A |
| rs743554 | 22939228 | 3691 | ITGB4 | umls:C1527249 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.000542884 | 2012 | GALK1;ITGB4 | 17 | 75758167 | G | A |
| rs743554 | 22939228 | 5894 | RAF1 | umls:C0009402 | BeFree | We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. | 0.003800186 | 2012 | GALK1;ITGB4 | 17 | 75758167 | G | A |
| rs74837985 | 20937634 | 1559 | CYP2C9 | umls:C1527249 | BeFree | The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. | 0.037210076 | 2010 | NA | NA | NA | NA | NA |
| rs74837985 | 20937634 | 1543 | CYP1A1 | umls:C0009402 | BeFree | The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. | 0.007328931 | 2010 | NA | NA | NA | NA | NA |
| rs74837985 | 20937634 | 1543 | CYP1A1 | umls:C1527249 | BeFree | The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. | 0.071510236 | 2010 | NA | NA | NA | NA | NA |
| rs74837985 | 20937634 | 2944 | GSTM1 | umls:C1527249 | BeFree | The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. | 0.094386419 | 2010 | NA | NA | NA | NA | NA |
| rs74837985 | 20937634 | 2944 | GSTM1 | umls:C0009402 | BeFree | The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. | 0.014114977 | 2010 | NA | NA | NA | NA | NA |
| rs74837985 | 20937634 | 1559 | CYP2C9 | umls:C0009402 | BeFree | The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. | 0.003800186 | 2010 | NA | NA | NA | NA | NA |
| rs749072 | 23240038 | 4292 | MLH1 | umls:C1527249 | BeFree | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 0.16 | 2012 | LRRFIP2 | 3 | 37054533 | T | C |
| rs749072 | 23240038 | 4292 | MLH1 | umls:C0009402 | BeFree | We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. | 0.082367032 | 2012 | LRRFIP2 | 3 | 37054533 | T | C |
| rs7553007 | 23755178 | 3845 | KRAS | umls:C0009402 | BeFree | Furthermore, the CRP SNP rs7553007 (hazard ratio [HR] = 1.101; 95% confidence interval [CI] = 1.011-1.200; P = 0.027) and KRAS/BRAF mutations (HR = 2.377; 95% CI = 1.293-4.368; P = 0.005) remained predictive for the CSS of CRC patients with synchronous liver metastasis in multivariate analysis. | 0.082367032 | 2013 | NA | 1 | 159728759 | G | A |
| rs7553007 | 23755178 | 140913 | PPIAP10 | umls:C1527249 | BeFree | We aimed to determine the impact of the CRP-specific single nucleotide polymorphism (SNP) rs7553007 in liver metastasis on the CRC-specific survival (CSS) of patients after colorectal liver metastasectomy. | 0.001357209 | 2013 | NA | 1 | 159728759 | G | A |
| rs7553007 | 23755178 | 3845 | KRAS | umls:C1527249 | BeFree | Furthermore, the CRP SNP rs7553007 (hazard ratio [HR] = 1.101; 95% confidence interval [CI] = 1.011-1.200; P = 0.027) and KRAS/BRAF mutations (HR = 2.377; 95% CI = 1.293-4.368; P = 0.005) remained predictive for the CSS of CRC patients with synchronous liver metastasis in multivariate analysis. | 0.16 | 2013 | NA | 1 | 159728759 | G | A |
| rs7553007 | 23755178 | 140913 | PPIAP10 | umls:C0009402 | BeFree | We aimed to determine the impact of the CRP-specific single nucleotide polymorphism (SNP) rs7553007 in liver metastasis on the CRC-specific survival (CSS) of patients after colorectal liver metastasectomy. | 0.001357209 | 2013 | NA | 1 | 159728759 | G | A |
| rs7578153 | 24822274 | 54575 | UGT1A10 | umls:C0009402 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | MROH2A | 2 | 233777511 | C | T |
| rs7578153 | 24822274 | 54575 | UGT1A10 | umls:C1527249 | BeFree | UGT1A haplotype analysis found that the T-G haplotype in UGT1A10 exon 1 (block 2: rs17864678, rs10929251) decreased cancer risk for the colon [proximal (OR = 0.28, 95% CI = 0.11–0.69) and for the distal colon (OR = 0.32, 95% CI = 0.12–0.91)], and that the C-T-G haplotype in the 3′ region flanking the UGT1A shared exons (block 11: rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56, 95% CI = 1.10–5.95). | 0.000271442 | 2014 | MROH2A | 2 | 233777511 | C | T |
| rs7578597 | 21602532 | 8549 | LGR5 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004614512 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 3767 | KCNJ11 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 3767 | KCNJ11 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 8549 | LGR5 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004885954 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 221895 | JAZF1 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 7103 | TSPAN8 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 221895 | JAZF1 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | THADA | 2 | 43505684 | T | C |
| rs7578597 | 21602532 | 7103 | TSPAN8 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | THADA | 2 | 43505684 | T | C |
| rs76328980 | 21821144 | 27306 | HPGDS | umls:C1527249 | BeFree | Hematopoietic prostaglandin D synthase (HPGDS): a high stability, Val187Ile isoenzyme common among African Americans and its relationship to risk for colorectal cancer. | 0.012214884 | 2012 | HPGDS | 4 | 94299521 | C | T |
| rs76328980 | 21821144 | 27306 | HPGDS | umls:C0009402 | BeFree | Hematopoietic prostaglandin D synthase (HPGDS): a high stability, Val187Ile isoenzyme common among African Americans and its relationship to risk for colorectal cancer. | 0.011943442 | 2012 | HPGDS | 4 | 94299521 | C | T |
| rs763780 | 25296730 | 112744 | IL17F | umls:C1527249 | BeFree | The results of this study indicate that the 7488T>C (rs763780) in the IL-17F gene may be correlated with increased risk of CRC. | 0.001085767 | 2014 | IL17F;LOC105375088 | 6 | 52236941 | T | C |
| rs763780 | 25296730 | 112744 | IL17F | umls:C0009402 | BeFree | The results of this study indicate that the 7488T>C (rs763780) in the IL-17F gene may be correlated with increased risk of CRC. | 0.001085767 | 2014 | IL17F;LOC105375088 | 6 | 52236941 | T | C |
| rs7754840 | 22419714 | 6934 | TCF7L2 | umls:C1527249 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.135863181 | 2012 | CDKAL1 | 6 | 20661019 | G | C,T |
| rs7754840 | 22419714 | 54901 | CDKAL1 | umls:C0009402 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.000271442 | 2012 | CDKAL1 | 6 | 20661019 | G | C,T |
| rs7754840 | 22419714 | 54901 | CDKAL1 | umls:C1527249 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.000271442 | 2012 | CDKAL1 | 6 | 20661019 | G | C,T |
| rs7754840 | 22419714 | 6934 | TCF7L2 | umls:C0009402 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.011400559 | 2012 | CDKAL1 | 6 | 20661019 | G | C,T |
| rs7758229 | 21242260 | 6581 | SLC22A3 | umls:C1527249 | GWASCAT | Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. | 0.123528744 | 2011 | SLC22A3 | 6 | 160419220 | G | T |
| rs7758229 | 21242260 | 4092 | SMAD7 | umls:C0009402 | BeFree | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. | 0.009229024 | 2011 | SLC22A3 | 6 | 160419220 | G | T |
| rs7758229 | 23555006 | 6581 | SLC22A3 | umls:C1527249 | BeFree | A recent genome-wide association study has identified a new genetic variant rs7758229 in SLC22A3 for colorectal cancer susceptibility in a Japanese population, but it is unknown whether this newly identified variant is associated with colorectal cancer in other populations, including the Chinese population. | 0.123528744 | 2013 | SLC22A3 | 6 | 160419220 | G | T |
| rs7758229 | 21242260 | 4092 | SMAD7 | umls:C1527249 | BeFree | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. | 0.162367471 | 2011 | SLC22A3 | 6 | 160419220 | G | T |
| rs7758229 | 23555006 | 6581 | SLC22A3 | umls:C0009402 | BeFree | A recent genome-wide association study has identified a new genetic variant rs7758229 in SLC22A3 for colorectal cancer susceptibility in a Japanese population, but it is unknown whether this newly identified variant is associated with colorectal cancer in other populations, including the Chinese population. | 0.003800186 | 2013 | SLC22A3 | 6 | 160419220 | G | T |
| rs7775 | 17420170 | 2487 | FRZB | umls:C1527249 | BeFree | The functional genetic variant Arg324Gly of frizzled-related protein is associated with colorectal cancer risk. | 0.002909916 | 2007 | FRZB | 2 | 182834857 | G | T,C,A |
| rs7775 | 17420170 | 2487 | FRZB | umls:C0009402 | BeFree | The functional genetic variant Arg324Gly of frizzled-related protein is associated with colorectal cancer risk. | 0.000542884 | 2007 | FRZB | 2 | 182834857 | G | T,C,A |
| rs7873784 | 19760027 | 7099 | TLR4 | umls:C0009402 | BeFree | Two CRP haplotypes (global p = 0.04) and TLR4 tagSNPs (rs7873784, rs11536891), but not TLR4 haplotypes, were associated with colorectal cancer. | 0.00434307 | 2009 | TLR4 | 9 | 117716658 | G | A,C |
| rs7873784 | 19760027 | 7099 | TLR4 | umls:C1527249 | BeFree | Two CRP haplotypes (global p = 0.04) and TLR4 tagSNPs (rs7873784, rs11536891), but not TLR4 haplotypes, were associated with colorectal cancer. | 0.008262808 | 2009 | TLR4 | 9 | 117716658 | G | A,C |
| rs7903146 | 22419714 | 54901 | CDKAL1 | umls:C1527249 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.000271442 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 22419714 | 6934 | TCF7L2 | umls:C1527249 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.135863181 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 22419714 | 3596 | IL13 | umls:C0009402 | BeFree | Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(trend) = 0.02), whereas patients harboring the IL13_rs20541_T allele had a reduced risk (P(trend) = 0.02). | 0.001085767 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 22419714 | 54901 | CDKAL1 | umls:C0009402 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.000271442 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 22419714 | 3596 | IL13 | umls:C1527249 | BeFree | Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(trend) = 0.02), whereas patients harboring the IL13_rs20541_T allele had a reduced risk (P(trend) = 0.02). | 0.001085767 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 22419714 | 6934 | TCF7L2 | umls:C0009402 | BeFree | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated with an increased risk of CRC in women (P(trend) = 0.003) but not in men (P(interaction) = 0.06); the LTA_rs1041981_A allele was associated with a decreased risk for CRC in women (P(trend) = 0.02), with an opposite effect in men (P(trend) = 0.05; P(interaction) = 0.002); the CDKAL1_rs7754840_C allele was associated with a decreased risk for CRC in men (P(trend) = 0.03), with no effect in women (P(interaction) = 0.03). | 0.011400559 | 2012 | TCF7L2 | 10 | 112998590 | C | T |
| rs7911488 | 25977444 | 596 | BCL2 | umls:C0009402 | BeFree | In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC. | 0.01601507 | 2015 | USMG5;MIR1307 | 10 | 103394332 | A | G |
| rs7911488 | 25977444 | 4154 | MBNL1 | umls:C0009402 | BeFree | In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC. | 0.000271442 | 2015 | USMG5;MIR1307 | 10 | 103394332 | A | G |
| rs7911488 | 25977444 | 596 | BCL2 | umls:C1527249 | BeFree | In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC. | 0.012486326 | 2015 | USMG5;MIR1307 | 10 | 103394332 | A | G |
| rs7911488 | 25977444 | 4154 | MBNL1 | umls:C1527249 | BeFree | In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC. | 0.000271442 | 2015 | USMG5;MIR1307 | 10 | 103394332 | A | G |
| rs7911488 | 25977444 | 100302174 | MIR1307 | umls:C0009402 | BeFree | In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC. | 0.000271442 | 2015 | USMG5;MIR1307 | 10 | 103394332 | A | G |
| rs7911488 | 25977444 | 100302174 | MIR1307 | umls:C1527249 | BeFree | In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC. | 0.000271442 | 2015 | USMG5;MIR1307 | 10 | 103394332 | A | G |
| rs7961581 | 21602532 | 7103 | TSPAN8 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 8549 | LGR5 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004885954 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 221895 | JAZF1 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 8549 | LGR5 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004614512 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 3767 | KCNJ11 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 221895 | JAZF1 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 7103 | TSPAN8 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | NA | 12 | 71269322 | C | T |
| rs7961581 | 21602532 | 3767 | KCNJ11 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | NA | 12 | 71269322 | C | T |
| rs8003379 | 23893618 | 7298 | TYMS | umls:C0009402 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.032573025 | 2013 | MTHFD1 | 14 | 64406881 | A | C |
| rs8003379 | 23893618 | 4522 | MTHFD1 | umls:C0009402 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.000814326 | 2013 | MTHFD1 | 14 | 64406881 | A | C |
| rs8003379 | 23893618 | 7298 | TYMS | umls:C1527249 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.111758699 | 2013 | MTHFD1 | 14 | 64406881 | A | C |
| rs8003379 | 23893618 | 4522 | MTHFD1 | umls:C1527249 | BeFree | Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). | 0.015016517 | 2013 | MTHFD1 | 14 | 64406881 | A | C |
| rs8176746 | 24941225 | 28 | ABO | umls:C0009402 | BeFree | The rs1047781 (chr19- FUT2) (A/T) was associated with elevated sCEA levels, and rs8176746 (chr9- ABO) was associated with the regional lymph metastasis in the CRC patients. | 0.000271442 | 2014 | ABO | 9 | 133255935 | G | T,A |
| rs8176746 | 24941225 | 28 | ABO | umls:C1527249 | BeFree | The rs1047781 (chr19- FUT2) (A/T) was associated with elevated sCEA levels, and rs8176746 (chr9- ABO) was associated with the regional lymph metastasis in the CRC patients. | 0.000271442 | 2014 | ABO | 9 | 133255935 | G | T,A |
| rs833061 | 25139485 | 25801 | GCA | umls:C1527249 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.000271442 | 2014 | VEGFA | 6 | 43769749 | C | T |
| rs833061 | 19904558 | 7422 | VEGFA | umls:C1527249 | GAD | [The importance of -460 C/T and +405 G/C single nucleotide polymorphisms to the function of vascular endothelial growth factor A in colorectal cancer.] | 0.053528926 | 2010 | VEGFA | 6 | 43769749 | C | T |
| rs833061 | 25139485 | 25801 | GCA | umls:C0009402 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.000271442 | 2014 | VEGFA | 6 | 43769749 | C | T |
| rs833061 | 25139485 | 2321 | FLT1 | umls:C1527249 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.002171535 | 2014 | VEGFA | 6 | 43769749 | C | T |
| rs833061 | 25139485 | 2321 | FLT1 | umls:C0009402 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.002985861 | 2014 | VEGFA | 6 | 43769749 | C | T |
| rs854560 | 25684529 | 5444 | PON1 | umls:C1527249 | BeFree | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer and effect of surgical intervention. | 0.002909916 | 2015 | PON1 | 7 | 95316772 | A | C,G,N,T |
| rs854560 | 25684529 | 5444 | PON1 | umls:C0009402 | BeFree | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer and effect of surgical intervention. | 0.000542884 | 2015 | PON1 | 7 | 95316772 | A | C,G,N,T |
| rs861539 | 24166604 | 7517 | XRCC3 | umls:C0009402 | BeFree | Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer in the Polish population. | 0.004885954 | 2014 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 24687779 | 7517 | XRCC3 | umls:C1527249 | BeFree | No association between XRCC3 Thr241Met and XPD Lys751Gln polymorphisms and the risk of colorectal cancer in West Algerian population: a case-control study. | 0.028556273 | 2014 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25824748 | 7517 | XRCC3 | umls:C0009402 | BeFree | Association between the XRCC3 Thr241Met polymorphism and risk of colorectal cancer: a meta analysis of 5,193 cases and 6,645 controls. | 0.004885954 | 2016 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25520078 | 7517 | XRCC3 | umls:C1527249 | BeFree | XRCC3 Thr241Met gene polymorphism and risk of colorectal cancer in Kashmir: a case control study. | 0.028556273 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 24166604 | 7517 | XRCC3 | umls:C1527249 | BeFree | Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer in the Polish population. | 0.028556273 | 2014 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 24687779 | 7517 | XRCC3 | umls:C0009402 | BeFree | No association between XRCC3 Thr241Met and XPD Lys751Gln polymorphisms and the risk of colorectal cancer in West Algerian population: a case-control study. | 0.004885954 | 2014 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16271954 | 7517 | XRCC3 | umls:C0009402 | BeFree | The association of the DNA repair gene XRCC3 Thr241Met polymorphism with susceptibility to colorectal cancer in a Chinese population. | 0.004885954 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25520078 | 7517 | XRCC3 | umls:C0009402 | BeFree | XRCC3 Thr241Met gene polymorphism and risk of colorectal cancer in Kashmir: a case control study. | 0.004885954 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 25824748 | 7517 | XRCC3 | umls:C1527249 | BeFree | Association between the XRCC3 Thr241Met polymorphism and risk of colorectal cancer: a meta analysis of 5,193 cases and 6,645 controls. | 0.028556273 | 2016 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 23504553 | 7517 | XRCC3 | umls:C0009402 | BeFree | Association between XRCC3 Thr241Met polymorphism and colorectal cancer risk. | 0.004885954 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15914278 | 2068 | ERCC2 | umls:C1527249 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.057503541 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15914278 | 7515 | XRCC1 | umls:C0009402 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.012681823 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15914278 | 7517 | XRCC3 | umls:C0009402 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.004885954 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 16271954 | 7517 | XRCC3 | umls:C1527249 | BeFree | The association of the DNA repair gene XRCC3 Thr241Met polymorphism with susceptibility to colorectal cancer in a Chinese population. | 0.028556273 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15914278 | 7517 | XRCC3 | umls:C1527249 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.028556273 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 23504553 | 7517 | XRCC3 | umls:C1527249 | BeFree | Association between XRCC3 Thr241Met polymorphism and colorectal cancer risk. | 0.028556273 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15914278 | 7515 | XRCC1 | umls:C1527249 | BeFree | Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset colorectal cancer and the XRCC3 Thr241Met polymorphism may modify the risk for meat-associated colorectal cancer. | 0.062389495 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 15914278 | 2068 | ERCC2 | umls:C0009402 | BeFree | This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. | 0.010434343 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs864745 | 21602532 | 221895 | JAZF1 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 8549 | LGR5 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004614512 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 8549 | LGR5 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.004885954 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 221895 | JAZF1 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 3767 | KCNJ11 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 7103 | TSPAN8 | umls:C0009402 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 7103 | TSPAN8 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000542884 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs864745 | 21602532 | 3767 | KCNJ11 | umls:C1527249 | BeFree | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (JAZF1), rs5219 (KCNJ11) and rs7961581 (TSPAN8, LGR5). | 0.000271442 | 2011 | JAZF1 | 7 | 28140937 | T | C |
| rs9282861 | 12165038 | 6817 | SULT1A1 | umls:C1527249 | BeFree | Association of the SULT1A1 R213H polymorphism with colorectal cancer. | 0.035309983 | 2002 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 21695180 | 6817 | SULT1A1 | umls:C0009402 | BeFree | Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta-analysis. | 0.002171535 | 2011 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 21695180 | 6817 | SULT1A1 | umls:C1527249 | BeFree | Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta-analysis. | 0.035309983 | 2011 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs9282861 | 12165038 | 6817 | SULT1A1 | umls:C0009402 | BeFree | Association of the SULT1A1 R213H polymorphism with colorectal cancer. | 0.002171535 | 2002 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
| rs932335 | 24061267 | 3290 | HSD11B1 | umls:C1527249 | BeFree | A variant (rs932335) in the HSD11B1 gene is associated with colorectal cancer in a Chinese population. | 0.000271442 | 2014 | HSD11B1;LOC101930114 | 1 | 209732389 | G | C |
| rs932335 | 24061267 | 3290 | HSD11B1 | umls:C0009402 | BeFree | A variant (rs932335) in the HSD11B1 gene is associated with colorectal cancer in a Chinese population. | 0.000271442 | 2014 | HSD11B1;LOC101930114 | 1 | 209732389 | G | C |
| rs9344 | 18196581 | 595 | CCND1 | umls:C1527249 | GAD | [The association of cyclin D1 G870A and E-cadherin C-160A polymorphisms with the risk of colorectal cancer in a case control study and meta-analysis.] | 0.06754689 | 2008 | CCND1 | 11 | 69648142 | G | A |
| rs9438 | 18619730 | 170506 | DHX36 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 5698 | PSMB9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 7057 | THBS1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.001900093 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 270 | AMPD1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 10142 | AKAP9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 4292 | MLH1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.16 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 170506 | DHX36 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 27122 | DKK3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 51200 | CPA4 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 51200 | CPA4 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 10973 | ASCC3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000271442 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 270 | AMPD1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 5698 | PSMB9 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 27122 | DKK3 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000814326 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 4292 | MLH1 | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.082367032 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 3990 | LIPC | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 7057 | THBS1 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.006634157 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 10973 | ASCC3 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002638474 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 10142 | AKAP9 | umls:C1527249 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.002909916 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9438 | 18619730 | 3990 | LIPC | umls:C0009402 | BeFree | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls. | 0.000542884 | 2008 | DHX36 | 3 | 154301098 | G | C |
| rs9513070 | 25139485 | 2321 | FLT1 | umls:C0009402 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.002985861 | 2014 | FLT1 | 13 | 28305702 | G | A |
| rs9513070 | 25139485 | 2321 | FLT1 | umls:C1527249 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.002171535 | 2014 | FLT1 | 13 | 28305702 | G | A |
| rs9513070 | 25139485 | 25801 | GCA | umls:C0009402 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.000271442 | 2014 | FLT1 | 13 | 28305702 | G | A |
| rs9513070 | 25139485 | 25801 | GCA | umls:C1527249 | BeFree | The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotypes are associated with PFS and OS in advanced CRC patients treated with cytotoxic chemotherapy plus bevacizumab. | 0.000271442 | 2014 | FLT1 | 13 | 28305702 | G | A |
| rs961253 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 19011631 | 652 | BMP4 | umls:C1527249 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.013268314 | 2008 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 19011631 | 652 | BMP4 | umls:C0009402 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.003800186 | 2008 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | NA | 20 | 6423634 | C | A |
| rs961253 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | NA | 20 | 6423634 | C | A |
| rs9929218 | 22367214 | 999 | CDH1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.171292716 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 650 | BMP2 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.001628651 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 652 | BMP4 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.013268314 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 652 | BMP4 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003800186 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 26585 | GREM1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003257302 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 4092 | SMAD7 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.162367471 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 8667 | EIF3H | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.000814326 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22363440 | 8996 | NOL3 | umls:C1527249 | BeFree | The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant decrease in expression of both NOL3 (q = 0.017) and DDX28 (q = 0.046) in the adjacent normal colon tissue samples. | 0.000814326 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22363440 | 8996 | NOL3 | umls:C0009402 | BeFree | The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant decrease in expression of both NOL3 (q = 0.017) and DDX28 (q = 0.046) in the adjacent normal colon tissue samples. | 0.000814326 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 999 | CDH1 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.007600372 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 8667 | EIF3H | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.010282454 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 19011631 | 652 | BMP4 | umls:C0009402 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.003800186 | 2008 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 4092 | SMAD7 | umls:C0009402 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.009229024 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 650 | BMP2 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.003995683 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 19011631 | 652 | BMP4 | umls:C1527249 | BeFree | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.013268314 | 2008 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22363440 | 55794 | DDX28 | umls:C0009402 | BeFree | The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant decrease in expression of both NOL3 (q = 0.017) and DDX28 (q = 0.046) in the adjacent normal colon tissue samples. | 0.000271442 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 19011631 | 999 | CDH1 | umls:C1527249 | GWASCAT | We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). | 0.171292716 | 2008 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22363440 | 55794 | DDX28 | umls:C1527249 | BeFree | The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant decrease in expression of both NOL3 (q = 0.017) and DDX28 (q = 0.046) in the adjacent normal colon tissue samples. | 0.000271442 | 2012 | CDH1 | 16 | 68787043 | G | A |
| rs9929218 | 22367214 | 26585 | GREM1 | umls:C1527249 | BeFree | We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). | 0.125624334 | 2012 | CDH1 | 16 | 68787043 | G | A |
