Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The merits of two techniques, molecular beacon and amplification effect of enzymatic color, are successfully combined, and the technique is simple, sensitive and specific, to detect and compare the methylenetetrahydrofolate reductase (MTHFR) Gene C677T mutation of subjects between coronary heart disease (CHD) and control group. 21802936

2011

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE To observe the association of MTHFR gene C677T locus polymorphism with occurrence of congenital heart defects (CHDs), 21 patients with atrial septal defect (ASD), 35 patients with patent ductus arteriosus (PDA), one patient with both conditions combined, and their biological parents were collected as the case group. 16373366

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with early onset of coronary artery disease in some populations with certain ethnic backgrounds. 18751630

2008

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Combined odds ratios (ORs) for the association between the MTHFR 677C-->T polymorphism and CHD were assessed by logistic regression. 12387655

2002

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The aim of this study was to investigate the relationship of the MTHFR C677T polymorphism with the risk of CHD in children with CHD and their parents by meta-analysis. 22175539

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The present study extends previous observations by the finding that carriers of the N5,N10-methylenetetrahydrofolate reductase C677T TT genotype with various coronary high risk profiles had clearly higher coronary heart disease scores than individuals with at least one C677T C allele. 10337543

1999

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Both <i>MTHFR</i> C677T (rs 1801133) and A1298C (rs 1801131) gene polymorphisms were risks for CHD in children with transgenerational effects from their parents. 30081597

2018

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Recent studies have shown that a common mutation (nucleotide 677 C-->T) in the methylenetetrahydrofolate reductase (MTHFR) gene may contribute to a mild rise in plasma homocysteine levels and increase the incidence of coronary artery disease. 16489563

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene. 22660520

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) 677C-->T polymorphism modifies the risk of coronary artery disease and colon cancer and is related to plasma concentrations of total homocysteine (tHcy). 15447919

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Plasma homocysteine levels & 677C-->T methylenetetrahydrofolate reductase gene polymorphism in patients with coronary artery disease of different severity. 18403793

2008

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Sex-specific effect of the thermolabile C677T mutation in the methylenetetrahydrofolate reductase gene on angiographically assessed coronary artery disease in Brazilians. 18075008

2007

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We investigated the influence of elevated homocysteine plasma levels and 2 polymorphisms, 677C/T and 1298A/C, of the methylenetetrahydrofolate reductase (MTHFR) gene on the risk of restenosis after stenting in patients with symptomatic coronary artery disease. 14604831

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR C677T gene polymorphism associated with a predisposition to increased plasma homocysteine levels could constitute a useful predictive marker for CHD in Chinese type 2 diabetic patients. 15607533

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease. 12522558

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Role of homocysteine & MTHFR C677T gene polymorphism as risk factors for coronary artery disease in young Indians. 22664498

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE C677T mutation of methylenetetrahydrofolate reductase gene and serum homocysteine levels in Turkish patients with coronary artery disease. 15648053

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease. 15353918

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Further larger studies and well-defined phenotypic subcategory analyses are needed to decide whether the MTHFR 677C-->T polymorphism of the affected child and/or their mother is truly a risk factor for the development of CHDs. 17965089

2007

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The distribution of genotype frequency at C677T polymorphism site was significantly different between the CHD group (including ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle, patent ductus arteriosus) (child and mother) and healthy control group (child and mother). 30334422

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE This case-control study aimed to evaluate the effect of maternal C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) as risk factors for the development of DS and congenital heart defects (CHD). 19725133

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Mutation C677T of methylenetetrahydrofolate reductase gene is not associated with coronary artery disease, but possibly with albuminuria, in type 2 diabetic patients. 9806473

1998

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Gene--nutrition interactions in coronary artery disease: correlation between the MTHFR C677T polymorphism and folate and homocysteine status in a Korean population. 15935452

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common mutation (nucleotide 677 C-->T) has been described recently in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which results in a valine for alanine substitution, a thermolabile enzyme, and a tendency to elevate plasma homocysteine levels and which has been proposed to contribute importantly to coronary artery disease. 8994411

1997

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Recent studies have shown that a common mutation (nucleotide 677 C-->T) in the methylenetetrahydrofolate reductase (MTHFR) gene may contribute to mild hyperhomocysteinemia and, therefore, to the incidence of coronary artery disease. 11319193

2001