Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. 29222906

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Here, we report on 3 men with hyperhomocysteinemia and the MTHFR C677T homozygous TT genotype that have reproductive histories of fetal NTDs. 30633186

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is a risk factor for neural tube defects. 25788000

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We found no association between any of the fathers' genotypes and NTDs, whereas a significant correlation between MTHFR C677T polymorphism and NTD risk was found in NTD patients and in their mother. 25808073

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Our study revealed that the SNPs of 677C > T and 1298A > C in MTHFR were associated with NTD-affected pregnancy, in which 677C > T was a risk factor and in contrast 1298A > C was protective factor against NTD. 25855017

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs. 24990354

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE However, in stratified analysis by geographical regions, we found that the maternal C677T polymorphism was significantly associated with the risk of NTD in Asian (OR(TvsC) = 1.43; 95% CI: 1.05-1.94), European (OR(TvsC) = 1.13; 95% CI: 1.04-1.24) and American (OR(TvsC) = 1.26; 95% CI: 1.13-1.41) populations. 25005003

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: should Japanese women undergo gene screening before pregnancy? 24588777

2014

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Our meta-analysis strongly suggested a significant association of the variant MTHFR C677T and a suggestive association of RFC-1 A80G with increased risk of NTDs. 23593147

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Haplotype tagging SNPs in the NOS genes were tested for genetic association with NTD subtypes, both for main effects as well as for the presence of interactions with the MTHFR C677T polymorphism. 24323870

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population. 23489792

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common C677T polymorphism in MTHFR has been associated with an increased risk for the development of cardiovascular disease, Alzheimer's disease, and depression in adults, and of neural tube defects in the fetus. 23116396

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The results suggested the maternal MTHFR C677T polymorphism is a genetic risk factor for NTDs. 23056169

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk. 22856873

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The commonly associated maternal polymorphism 677C>T in the MTHFR gene did not predict risk of NTDs in the offspring (p > 0.05) and 1298A>C and 1781G>A polymorphisms in MTHFR were protective (p = 0.024 and 0.0004 respectively). 21770021

2011

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Although tHcy seems to be physiologically low in this Spanish population and unrelated to folate and B12 nutritional status, C677T MTHFR genotype, and some pregnancy complications, we support the statement that appropriate folate concentration may be important throughout pregnancy to prevent abnormalities associated with altered status (e.g., neural tube defects). 21367581

2011

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE C677T allele frequencies in NTD children and their mothers were similar to those found in controls. 20589617

2010

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE No significant associations between the C677T and A1298C MTHFR gene polymorphisms and NTDs and no differences between the two main ethnic groups (white-Caucasians, Roma) were found in Slovakia. 20672355

2010

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The present study was conducted to evaluate the role of MTHFR 677 C-->T mutation as a risk factor for NTD in the South Indian population and to determine the relative importance of the genotypes in the affected child and its mother. 20887110

2010

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common polymorphism in the MTHFR gene (677C --> T) results in reduced enzymatic activity, and is associated with an increased risk for neural tube defects and cardiovascular disease. 19609317

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The aim of this study was to evaluate whether the cytosine-to-thymine mutation at base 677 of the methylenetetrahydrofolate reductase gene (MTHFR C677T), which has been associated with neural tube defects and congenital oral cleft, is also associated with tetralogy of Fallot (TF), a congenital heart disease. 19894660

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Folate deficiency and the presence of the 677C > T (CT) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene have been implicated in the causation of malformations in the fetus (particularly cleft lip and palate and neural tube defects). 17951123

2008

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Homozygosity for the thermolabile variant of 5,10-methylene tetrahydrofolate reductase (C677T) has been suggested to be positively associated with the risk of vascular disease and neural tube defects. 17010581

2007