rs72549402, ABCB11

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, 2
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
25 0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05 0.800 1.000 11 1998 2015
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
24 0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05 0.020 0.500 2 2007 2019