Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
ABCB1
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.020 GeneticVariation BEFREE In conclusion, fetal 3435 C>T polymorphism in the ABCB1 gene increases the risk for isolated septal defects in the presence of maternal medication use periconceptionally, particularly for perimembranous VSD. 24740628

2014
dbSNP: rs1045642
rs1045642
ABCB1
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.020 GeneticVariation BEFREE The C3435T polymorphism in the ABCB1 gene of fetus increases the risks of CHD in a Han Chinese population when the mothers are exposed to phthalates and alkylphenolic compounds during the periconceptional period, particularly for septal defects. 23874772

2013