Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. 24566197

2014

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 Maternal MTHFR C677T polymorphism and congenital heart defect risk in the Chinese Han population: a meta-analysis. 24338416

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies. 23536781

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects. 22175539

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. 19725133

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism. 17510921

2007

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. 17965089

2007

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 Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. 16524890

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE This study was undertaken to investigate the association between congenital heart defects (CHD), and maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism. 16389035

2006

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Fifty percent of these isolated congenital cardiac defects were associated with either the C677T MTHFR mutation or elevated amniotic fluid homocysteine levels, or both. 11303187

2001

dbSNP: rs1801394
rs1801394
0.040 GeneticVariation BEFREE Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect. 28758112

2017

dbSNP: rs1801394
rs1801394
0.040 GeneticVariation BEFREE Association between methionine synthase reductase A66G polymorphism and the risk of congenital heart defects: evidence from eight case-control studies. 24913415

2014

dbSNP: rs1801394
rs1801394
0.040 GeneticVariation BEFREE A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population. 22057956

2011

dbSNP: rs1801394
rs1801394
0.040 GeneticVariation BEFREE MTRR 66A>G polymorphism in relation to congenital heart defects. 17087642

2006

dbSNP: rs2236225
rs2236225
0.030 GeneticVariation BEFREE Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects. 28865601

2017

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies. 29202788

2017

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. 24566197

2014

dbSNP: rs2236225
rs2236225
0.030 GeneticVariation BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330

2013

dbSNP: rs2236225
rs2236225
0.030 GeneticVariation BEFREE The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. 18767138

2009

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. 19725133

2009

dbSNP: rs1045642
rs1045642
0.020 GeneticVariation BEFREE Increased risk for congenital heart defects in children carrying the ABCB1 Gene C3435T polymorphism and maternal periconceptional toxicants exposure. 23874772

2013

dbSNP: rs1045642
rs1045642
0.020 GeneticVariation BEFREE General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect. 21183151

2011

dbSNP: rs12921862
rs12921862
0.010 GeneticVariation BEFREE Genetic Variants at the rs4720169 Locus of <i>TBX20</i> and the rs12921862 Locus of <i>AXIN1</i> May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study. 31524541

2019