Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894073
rs104894073
GATA4
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 GeneticVariation BEFREE We previously reported a highly penetrant <i>GATA4</i> p.Gly296Ser mutation in familial, congenital atrial septal defects and pulmonic valve stenosis and showed that mice harboring the orthologous G295S disease-causing mutation display not only atrial septal defects, but also semilunar valve stenosis. 31138536

2019