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: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.800 1.000 3 2000 2004
dbSNP: rs121918441
rs121918441
ABCB4
1.000 7 87439761 missense variant G/T snv 4.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 1.000 3 2000 2004
dbSNP: rs757693457
rs757693457
ABCB4
1.000 7 87453031 missense variant C/T snv 8.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0