GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Truncus Arteriosus, Persistent ×
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: rs387906813
rs387906813 		0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0