Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72552778
rs72552778
ABCB4
0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.810 1.000 6 2001 2017
dbSNP: rs72552778
rs72552778
ABCB4
0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.800 1.000 3 2000 2004
dbSNP: rs72552778
rs72552778
ABCB4
0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 1.000 9 1998 2017