All Snps(Total Genotypes:103) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1047891 | 17188582 | 1373 | CPS1 | umls:C0013080 | BeFree | Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p=0.01), CPSI T1405N genotype (AC vs. AA: OR=4.08, p=0.04, CC vs. AA: OR=5.96, p=0.01), and Down syndrome (OR=5.25, p=0.04) were independent predictors of this complex phenotype. | 0.000271442 | 2007 | CPS1 | 2 | 210675783 | C | A |
| rs104893904 | 25524324 | 1482 | NKX2-5 | umls:C0013080 | BeFree | Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). | 0.000271442 | 2014 | NKX2-5 | 5 | 173235023 | C | G |
| rs1051266 | 23430030 | 875 | CBS | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.02424166 | 2013 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 23430030 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.006243163 | 2013 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs10763976 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | PARD3 | 10 | 34275364 | G | A |
| rs10763976 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | PARD3 | 10 | 34275364 | G | A |
| rs10763976 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | PARD3 | 10 | 34275364 | G | A |
| rs121912594 | 17188582 | 1373 | CPS1 | umls:C0013080 | BeFree | Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p=0.01), CPSI T1405N genotype (AC vs. AA: OR=4.08, p=0.04, CC vs. AA: OR=5.96, p=0.01), and Down syndrome (OR=5.25, p=0.04) were independent predictors of this complex phenotype. | 0.000271442 | 2007 | CPS1 | 2 | 210675762 | A | C |
| rs121913615 | 19194467 | 4352 | MPL | umls:C0013080 | BeFree | In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. | 0.000271442 | 2009 | MPL | 1 | 43349338 | G | T |
| rs1457092 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1457092 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1457092 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1496770 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78629694 | C | T |
| rs1496770 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78629694 | C | T |
| rs1496770 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78629694 | C | T |
| rs1801131 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801394 | 12626825 | 4548 | MTR | umls:C0013080 | BeFree | Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR, C677T) and methionine synthase gene (MTRR, A66G) in mothers with DS child. | 0.153190648 | 2003 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 25544792 | 4522 | MTHFD1 | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.003452799 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 4548 | MTR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.153190648 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 25544792 | 4552 | MTRR | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.039824805 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17934692 | 4552 | MTRR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.039824805 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17934692 | 4524 | MTHFR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.239186945 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.006243163 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 875 | CBS | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.02424166 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 4552 | MTRR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.039824805 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 4524 | MTHFR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.239186945 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1805087 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 875 | CBS | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.02424166 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 4548 | MTR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.153190648 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18060320 | 4548 | MTR | umls:C0013080 | BeFree | The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome. | 0.153190648 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 4524 | MTHFR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.239186945 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.006243163 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 4552 | MTRR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.039824805 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | MTR | 1 | 236885200 | A | G |
| rs2187247 | 18223136 | 90625 | ERVH48-1 | umls:C0013080 | BeFree | The expressed SNP (rs2187247) in exon 2 of the placentally expressed C21orf105 gene (chromosome 21 open reading frame 105) on chromosome 21 was tested in a trisomy 21 model system in which we obtained RNA selectively released from syncytiotrophoblasts of normal and trisomy 21 placentas during first trimester. | 0.000542884 | 2008 | ERVH48-1 | 21 | 42919268 | T | G |
| rs2236225 | 25544792 | 4552 | MTRR | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.039824805 | 2014 | MTHFD1 | 14 | 64442127 | G | A |
| rs2236225 | 25544792 | 4522 | MTHFD1 | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.003452799 | 2014 | MTHFD1 | 14 | 64442127 | G | A |
| rs2305764 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs2305764 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs2305764 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs28931614 | 10881785 | 2261 | FGFR3 | umls:C0013080 | BeFree | FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. | 0.000542884 | 2000 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28933068 | 21225389 | 2261 | FGFR3 | umls:C0013080 | BeFree | Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. | 0.000542884 | 2011 | FGFR3 | 4 | 1805644 | C | A,G,T |
| rs28936670 | 25524324 | 1482 | NKX2-5 | umls:C0013080 | BeFree | Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). | 0.000271442 | 2014 | NKX2-5 | 5 | 173235011 | G | A |
| rs368087026 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs386514057 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 23430030 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.006243163 | 2013 | NA | NA | NA | NA | NA |
| rs386514057 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 23430030 | 875 | CBS | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.02424166 | 2013 | NA | NA | NA | NA | NA |
| rs386514057 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | NA | NA | NA | NA | NA |
| rs397507444 | 24068460 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.006243163 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 23295071 | 4524 | MTHFR | umls:C0013080 | BeFree | Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis. | 0.239186945 | 2013 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 21159028 | 4524 | MTHFR | umls:C0013080 | BeFree | MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome. | 0.239186945 | 2011 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 875 | CBS | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.02424166 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17934692 | 4552 | MTRR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.039824805 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 21198396 | 4524 | MTHFR | umls:C0013080 | BeFree | Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan. | 0.239186945 | 2011 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17934692 | 4524 | MTHFR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.239186945 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 19725133 | 4524 | MTHFR | umls:C0013080 | BeFree | Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. | 0.239186945 | 2009 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 4552 | MTRR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.039824805 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 4548 | MTR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.153190648 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 4524 | MTHFR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.239186945 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs429358 | 20946940 | 6653 | SORL1 | umls:C0013080 | BeFree | As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively). | 0.000542884 | 2011 | APOE | 19 | 44908684 | T | C |
| rs429358 | 20946940 | 348 | APOE | umls:C0013080 | BeFree | As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively). | 0.030270801 | 2011 | APOE | 19 | 44908684 | T | C |
| rs429358 | 20946940 | 861 | RUNX1 | umls:C0013080 | BeFree | As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively). | 0.132777631 | 2011 | APOE | 19 | 44908684 | T | C |
| rs61748421 | 15228575 | 4204 | MECP2 | umls:C0013080 | BeFree | Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. | 0.001085767 | 2004 | MECP2 | X | 154031326 | G | T,A |
| rs6962966 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78174806 | A | G |
| rs6962966 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78174806 | A | G |
| rs6962966 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78174806 | A | G |
| rs9640699 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78366115 | A | C |
| rs9640699 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78366115 | A | C |
| rs9640699 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78366115 | A | C |
