DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
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: rs1057518788
rs1057518788 		0.925 0.120 18 31331787 stop gained G/T snv
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.700 0