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: rs72549398
rs72549398
0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
Digestive System Diseases 0.700 0