GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
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: rs200383755
rs200383755 		0.925 0.080 20 62475466 missense variant G/C snv 3.4E-03 3.0E-03
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs41305803
rs41305803 		1.000 0.040 20 62473493 missense variant G/A;C snv 0.41; 4.1E-06 0.43
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2018 2018