rs121909101, ATP8B1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
19 0.925 0.200 18 57674993 missense variant C/T snv 0.800 1.000 6 1998 2012
Progressive intrahepatic cholestasis (disorder)
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
10 0.925 0.200 18 57674993 missense variant C/T snv 0.700 0