GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Atrial Septal Defects ×
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: rs1555628863
rs1555628863 		0.925 0.080 18 22172215 frameshift variant G/- delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs387906816
rs387906816 		0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010