rs375315619, ABCB4

N. diseases: 4
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, INTRAHEPATIC, OF PREGNANCY 3
16 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.700 0
Cholestasis, progressive familial intrahepatic 1
19 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.700 0
Low phospholipid-associated cholelithiasis
29 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.700 0
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
24 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.010 1.000 1 2013 2013