Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE 5,10-methylenetetrahydrofolate reductase (MTHFR) is a folate-dependent enzyme that catalyzed remethylation of homocysteine (Hcy) and the MTHFR C677T polymorphism makes the MTHFR enzyme thermolabile causing hyperhomocysteinemia. 24052451

2014

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Hyperhomocysteinaemia and MTHFR C677T gene polymorphism in renal transplant recipients. 11420199

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Hyperhomocysteinemia increases the risk of venous thrombosis independent of the C677T mutation of the methylenetetrahydrofolate reductase gene in selected Brazilian patients. 11943942

2002

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease and the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene can induce hyperhomocysteinemia. 14644077

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations in patients with inflammatory bowel disease. 16262529

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Hyperhomocysteinemia in patients homozygotes for the C677T mutation may interfere with erection mechanisms and thus be responsible for ED. 19694922

2010

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Hyperhomocysteinaemia was significantly more frequent in migraine patients with the C677T variant. 23161188

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE C677T polymorphism in methylenetetrahydrofolate reductase gene (MTHFR) is a major determinant of hyperhomocysteinemia, which results in endothelial dysfunction. 15226090

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A 31 year old woman with essential hypertension grade III and branch retinal vein occlusion with homozygous C677T MTHFR hyperhomocysteinemia and high Lp(a) levels. 19135738

2010

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common mutation (C677T) in the gene encoding for methylenetetrahydrofolate reductase (MTHFR) is responsible, in the homozygous state, for decreased enzyme activity and mild hyperhomocysteinemia and is associated with increased risk for cardiovascular disease. 9327760

1997

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common mutation in methylenetetrahydrofolate reductase (MTHFR), 677C-->T, is associated with reduced enzyme activity, a thermolabile enzyme and mild hyperhomocysteinemia, a risk factor for vascular disease. 11395038

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common point mutation (C677T) in the gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with hyperhomocysteinemia, an independent risk factor and a strong predictor of mortality in patients with coronary artery disease (CAD). 15301885

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common variant of this enzyme, resulting from a 677C-->T (Ala-->Val) substitution in the gene, has been shown to have reduced activity and is associated with mild hyperhomocysteinemia. 11751445

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A cross-sectional study was performed in 120 maintenance HD patients to determine the prevalence of MTHFR C677T and A1298C mutations and their relative association to hyperhomocysteinemia and CVD. 12187094

2002

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A prevalence of up to 30% of fasting hyperhomocysteinemia has been recently reported in patients with retinal vein occlusion (RVO) whereas conflicting data exist on the role of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene as a risk factor for RVO. 12877902

2003

dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE A prevalence of up to 30% of fasting hyperhomocysteinemia has been recently reported in patients with retinal vein occlusion (RVO) whereas conflicting data exist on the role of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene as a risk factor for RVO. 12877902

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A statically significant, albeit weak, correlation between the MTHFR C677T mutation and hyperhomocysteinemia was found in all three diseases. 22928918

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). 24923843

2014

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). 24923843

2014

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE After multiple adjustment for other univariate predictors by Cox regression, including statin therapy (the most powerful predictor in uni-/multivariate analyses), high-sensitivity C Reactive Protein (hs-CRP) levels, and all known major genetic (MTHFR 677C-->T polymorphism) and non-genetic (B-group vitamin status and renal function) tHcy determinants, HHcy remained an independent prognostic factor for mortality (HRs: 5.02, 95% CIs 1.88 to 13.42, P = 0.001). 17183715

2006

dbSNP: rs899127658
rs899127658
F2
0.040 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711

2013

dbSNP: rs751377893
rs751377893
F5
0.020 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711

2013

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711

2013

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711

2013