GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: VENTRICULAR SEPTAL DEFECT, LARGE ×
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: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C0238521
Disease: VENTRICULAR SEPTAL DEFECT, LARGE
VENTRICULAR SEPTAL DEFECT, LARGE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014