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 Therefore, we conclude that homocysteine might affect the inflammatory status of patients, and the MTHFR 677C>T SNP could be a predictive factor of hyperhomocysteinemia in patients with RA. 19283524

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Some considerations are put forward about hyperhomocysteinemia and the MTHFR 677C-->T mutation as cardiovascular risk factors. 15773669

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To assess the prevalence of the C677T MTHFR genotype and the contribution of this genotype to hyper-tHcy in patients with IBD. 10446107

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Our study provided evidence that hyperhomocysteinemia (HHcy) and MTHFR C677T polymorphism were associated with IS. 29390494

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To determine the role of hyperhomocysteinemia in the pathogenesis of stroke in children with sickle cell disease (SCD), Hcy levels and C677T MTHFR genotype were determined in 40 patients homozygous for hemoglobin SS and compared with 197 healthy children. 10524453

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T methylenetetrahydrofolate reductase and A2756G methionine synthase polymorphisms in diabetic and non-diabetic subjects. 15820491

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To this purpose we have used platelets harvested from healthy volunteers or patients newly diagnosed with hyperhomocysteinemia with a C677T polymorphism of the MTHFR gene (MTHFR++). 24019484

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Subjects with the 677C-->T variant have impaired remethylation of Hcy to methionine that could determine hyperhomocysteinemia. 12471611

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE In conclusion, with high-dose folate supplementation, the hyperhomocysteinemia in patients with ESRD does not seem to be caused by the 677C-->T mutation in the MTHFR gene. 10430972

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We investigated whether the MTHFR C677T and A1298C polymorphisms contribute to hyperhomocysteinemia and increase the risk factor for stroke. 16629766

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Homozygosity for a common polymorphism in the MTHFR gene (C677T, Ala to Val) is associated with an increased risk of neural tube defects and hyperhomocysteinemia in individuals with low folate levels. 10695265

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of vitamin B12 mediated hyperhomocysteinemia and methylenetetrafolate reductase (C677T) gene polymorphism with cognitive impairment: A population based study from North India. 30245375

2018

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinaemia and MTHFR C677T gene polymorphism in renal transplant recipients. 11420199

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
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
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE No association was found between Hhcy and C677T polymorphism in the MTHFR gene. 19083485

2008

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Because they have been described as strong risk factors for idiopathic recurrent pregnancy losses (RPLs), we assessed the association between the methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs) C677T and A1298C and hyperhomocysteinemia in Tunisian women with idiopathic RPL. 16452733

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE With an excellent sensitivity and a modest specificity, C677T could be a useful screening marker for severe HHcy. 24459043

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity, hyperhomocysteinaemia and increased risk for atherosclerosis in homozygotes. 11094304

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T variant of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the remethylation of homocysteine to methionine, is a frequent genetic cause of mild hyperhomocysteinemia among individuals with low folate status. 14608052

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We conclude that most subjects with hyperhomocysteinemia > or = 40 micromol/liter in the general population have the C677T mutation combined with low folate status. 8903338

1996

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson's disease. 15354385

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). 24923843

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Population frequency for homozygotic-TT alleles for C677T-MTHFR reductase and hyperhomocysteinemia is significantly higher in women under 40 years. 12553950

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Of the 58 patients, 30 had factor V Leiden mutation (5 homozygous, 25 heterozygous), 16 had prothrombin gene mutation, 24 had methylenetetrahydrofolate reductase C677T mutation (5 homozygous, 19 heterozygous), 18 had protein C deficiency, 17 had protein S deficiency, 14 had antithrombin III deficiency and 13 had hyperhomocysteinaemia. 25326427

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE In conclusion, a genetic background such as the MTHFR C677T polymorphism responsible for hyperhomocysteinemia plays a role in the development of higher degree of steatosis, which in turn accelerates the progression of liver fibrosis in CHC. 15834927

2005