GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Perimembranous ventricular septal defect ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs115099192
rs115099192 		0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05
CUI: C0344925
Disease: Perimembranous ventricular septal defect
Perimembranous ventricular septal defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs387906769
rs387906769 		0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05
CUI: C0344925
Disease: Perimembranous ventricular septal defect
Perimembranous ventricular septal defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010