Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
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
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T and hyperhomocysteinemia were more prevalent than other thrombophilias. 17688607

2007

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE It suggests that MTHFR C677T mutation is associated with hyperhomocysteinemia in the ischemic CRVO in the Chinese population. 17719079

2008

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. 17510921

2007

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The MTHFR C677T and A1298 polymorphisms (individually or in concert) and hyperhomocysteinemia represent important risk factors for IS. 23642756

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The 677C>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinaemia. 14656017

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Homozygosity for the common (677C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with hyperhomocysteinemia, but there is uncertainty as to the association between this mutation and coronary artery disease (CAD). 10595952

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The variant methylenetetrahydrofolate reductase (MTHFR) C677T is associated with elevated homocysteine levels, cardiovascular disease and stroke, which supports a causal relationship between hyperhomocysteinemia and vascular disease. 23285280

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
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
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants. 12015164

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members. 22665972

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE While results from this study clearly demonstrate a strong association of hyperhomocysteinemia and homozygosity of the MTHFR C677T, but not FV-Leiden or PRT G20210A, mutations with confirmed CAD, they also suggest a potential role for factor V-Leiden in MTHFR C677T carriers. 15353918

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism was not related to SVD and LVD, although the TT genotype was an important determinant of hyperhomocysteinemia. 25031284

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Our study suggests that both C677T and A1298C MTHFR polymorphisms should be examined when assessing genetic risk factors of hyperhomocysteinemia in epilepsy. 15970629

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The lowering action of carbamazepine treatment on folate levels seems to be associated with hyperhomocysteinaemia, which seems to be related to the homozygous condition for the MTHFR 677C-->T mutation. 11277368

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism with hyperhomocysteinemia, renal failure, and cardiovascular events is controversial. 23534584

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE He was found as having MTHFR C677T homozygote and plasminogen activator inhibitor-1 4G/5G heterozygote gene mutation with high homocysteine level of 22.90 µmol/L, and he was diagnosed as hyperhomocysteinemia. 31409160

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
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: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia. 20031640

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We conclude that although the C677T/MTHFR mutation is a major cause of mild hyperhomocysteinemia, the mutation does not increase cardiovascular risk. 9843457

1998

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To determine the incidence of methylene tetrahydrofolate reductase (MTHFR) gene 677C-->T polymorphism and plasma homocysteine (Hcy) levels in a group of subjects who underwent coronary angiography, in an attempt to establish a correlation between these parameters and the severity of coronary artery disease (CAD) and to investigate the correlation between hyperhomocysteinemia (HHcy) and the presence of 677C-->T polymorphism. 18074111

2008

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We calculated the prevalences of prothrombin G20210A, factor V G1691A (also associated with high risk for DVT) and homozygous methylenetetrahydrofolate reductase (MTHFR) C677T (associated with increased susceptibility to develop hyperhomocysteinemia) in 118 patients with a first episode of DVT and in 416 healthy controls. 10065893

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. 10780318

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Moreover, the 677 C-->T genotype is a strong factor for predisposition to hyperhomocysteinemia and recurrent risk of stroke that might also be prevented with folate supplementation. 10830195

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T mutation of the methylenetetrahydrofolate reductase gene, which may lead to hyperhomocysteinemia, is also considered a risk factor for VTE in some studies. 17401546

2007