Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894073
rs104894073
0.800 GeneticVariation UNIPROT A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. 22101736

2012

dbSNP: rs104894073
rs104894073
0.800 GeneticVariation UNIPROT A novel GATA4 mutation responsible for congenital ventricular septal defects. 21637914

2011

dbSNP: rs104894073
rs104894073
0.800 GeneticVariation UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066

2010

dbSNP: rs104894073
rs104894073
0.800 GeneticVariation UNIPROT GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102

2009

dbSNP: rs104894073
rs104894073
C 0.800 CausalMutation CLINVAR