GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Bicuspid aortic valve ×
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: rs3764962
rs3764962 		1.000 0.040 18 22183050 splice region variant A/G snv 6.9E-02 0.20
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2018 2018