Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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