Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population. 14652285 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0039483
Disease:
Giant Cell Arteritis
0.010 GeneticVariation BEFREE Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population. 14652285 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE MTHFR 677 C --> T and MTRR 66 A --> G polymorphisms are associated with a greater risk of having a child with DS in North America, Ireland and The Netherlands. 14656028 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE MTHFR 677 C --> T and MTRR 66 A --> G polymorphisms are associated with a greater risk of having a child with DS in North America, Ireland and The Netherlands. 14656028 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE The MTHFR 677C-->T polymorphism was shown to represent a risk factor in NTD cases (CC v CT+TT odds ratio (OR) 2.03 [95% confidence interval (CI) 1.09, 3.79] p = 0.025) and the MTRR 66A-->G</span> polymorphism was shown to exert a protective effect in NTD cases (AA v AG+GG OR 0.31 [95% CI 0.10, 0.94] p = 0.04). 15060097 2004
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE The allelic variants of MTRR 66A > G showed no significant association with total homocysteine (tHcy) levels, both in univariate analyses, and in a multivariate model controlling for age, gender, body mass index, renal function, time since transplantation, underlying kidney disease, as well as the MTHFR 677C > T/1298A > C genotypes. 15135249 2004
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE In a case-control study, we evaluated whether four common polymorphisms in methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MS A2756G), and methionine synthase reductase (MTRR A66G) genes may have a role in altering susceptibility to adult acute lymphoblastic leukemia (ALL) and non-Hodgkin's lymphoma (NHL). 15159311 2004
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE In a case-control study, we evaluated whether four common polymorphisms in methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MS A2756G), and methionine synthase reductase (MTRR A66G) genes may have a role in altering susceptibility to adult acute lymphoblastic leukemia (ALL) and non-Hodgkin's lymphoma (NHL). 15159311 2004
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C; methionine synthase (MS) A2756G; methionine synthase reductase (MTRR) A66G] in relation to total plasma Hcy levels, transplant coronary artery disease and thromboembolic episodes in 84 heart transplant patients, and we compared the incidence of these polymorphisms with those in a healthy adult controls. 15612980 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C1956346
Disease:
Coronary Artery Disease
0.050 GeneticVariation BEFREE We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C; methionine synthase (MS) A2756G; methionine synthase reductase (MTRR) A66G] in relation to total plasma Hcy levels, transplant coronary artery disease and thromboembolic episodes in 84 heart transplant patients, and we compared the incidence of these polymorphisms with those in a healthy adult controls. 15612980 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.030 GeneticVariation BEFREE We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C; methionine synthase (MS) A2756G; methionine synthase reductase (MTRR) A66G] in relation to total plasma Hcy levels, transplant coronary artery disease and thromboembolic episodes in 84 heart transplant patients, and we compared the incidence of these polymorphisms with those in a healthy adult controls. 15612980 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous
0.010 GeneticVariation BEFREE In conclusion, there was a significant difference in the frequency of the G allele genotype of the MTRR A66G in CTX patients versus controls. 15612980 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation 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. 15889417 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation 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. 15889417 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.020 GeneticVariation BEFREE In conclusion, our data provide evidence that support the association between the MTR A2756G and MTRR G66A polymorphisms and SCCHN risk and that these two polymorphisms may have a joint effect on risk of SCCHN. 15894670 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE No association was found between NTD</span>s and I22M </span>in mothers (p = 0.16, OR1.14 [0.95-1.38], n = 447) or cases (p = 0.13, OR1.15 [0.96-1.38], n = 470) compared to controls (n = 476). 15979034 2005
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE No significant NTD association was found with S175L or K350R in cases or their parents and no interactions were observed between these polymorphisms and the D919G variant of MTR or the A222V variant of 5,10-methylenetetrahydrofolate reductase (MTHFR). 15979034 2005
dbSNP: rs162036
rs162036
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE No significant NTD association was found with S175L or K350R in cases or their parents and no interactions were observed between these polymorphisms and the D919G variant of MTR or the A222V variant of 5,10-methylenetetrahydrofolate reductase (MTHFR). 15979034 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE In conclusion, our data provide evidence supporting the association between the MTR 2756A>G and MTRR 66A>G polymorphisms and lung cancer risk, which may be modulated by dietary nutrient intake. 16006998 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0684249
Disease:
Carcinoma of lung
0.040 GeneticVariation BEFREE In conclusion, our data provide evidence supporting the association between the MTR 2756A>G and MTRR 66A>G polymorphisms and lung cancer risk, which may be modulated by dietary nutrient intake. 16006998 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.040 GeneticVariation BEFREE In conclusion, our data provide evidence supporting the association between the MTR 2756A>G and MTRR 66A>G polymorphisms and lung cancer risk, which may be modulated by dietary nutrient intake. 16006998 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C1956346
Disease:
Coronary Artery Disease
0.050 GeneticVariation BEFREE In contrast, the association of the substitutions A2756G of methionine synthase (MTR), A66G of methionine synthase reductase (MTRR) and C776G of transcobalamin (TCN) to both t-Hcys and CAD needs to be evaluated further. 16268464 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C > T and 1298A > C of the methylenetetrahydrofolate reductase (MTHFR) gene, and 66A > G in the MTRR gene) on total plasmatic homocysteine (Hcy), in 91 mothers of Down syndrome (DS) infants and 90 control mothers. 16575899 2006
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C > T and 1298A > C of the methylenetetrahydrofolate reductase (MTHFR) gene, and 66A > G in the MTRR gene) on total plasmatic homocysteine (Hcy), in 91 mothers of Down syndrome (DS) infants and 90 control mothers. 16575899 2006
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE The methionine-synthase-reductase A66G, the methionine-synthase A2756G and the cystathionine-beta-synthase 844ins68 polymorphisms were not associated with increased risk of Down syndrome. 16845273 2006