ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909103
rs121909103 		0.925 0.080 18 57661282 missense variant G/A snv 4.0E-06
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.800 1.000 3 2005 2009
dbSNP: rs146599962
rs146599962 		1.000 18 57731674 missense variant T/G snv 4.7E-03 4.9E-03
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.700 1.000 3 2005 2009
dbSNP: rs56355310
rs56355310 		1.000 18 57697815 missense variant T/C snv 8.9E-04 9.3E-04
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.700 1.000 3 2005 2009
dbSNP: rs34719006
rs34719006 		0.882 0.080 18 57706561 missense variant C/A;T snv 1.2E-05; 3.2E-03
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.700 0