rs72552778, ABCB4

N. diseases: 5
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.
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
29 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.810 1.000 7 2001 2017
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
16 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.800 1.000 3 2000 2004
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
3 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.700 1.000 10 2001 2016
Cholestasis, progressive familial intrahepatic 3
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
28 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.700 1.000 9 1998 2017
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.010 1.000 1 2014 2014