ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
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: rs1569484208
rs1569484208 		1.000 0.040 MT 8418 protein altering variant -/ATA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.700 0
dbSNP: rs1569484234
rs1569484234 		1.000 0.040 MT 8750 protein altering variant -/AAA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.700 0