ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: Cholestasis of pregnancy ×
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: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs34719006
rs34719006 		0.882 0.080 18 57706561 missense variant C/A;T snv 1.2E-05; 3.2E-03
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009