ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: Cholestasis, benign recurrent intrahepatic 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: rs121909100
rs121909100 		0.882 0.200 18 57669433 missense variant A/G snv 9.6E-05 9.1E-05
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.800 1.000 4 1998 2009
dbSNP: rs111033609
rs111033609 		0.882 0.200 18 57695188 missense variant C/A;T snv 4.0E-06
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 1.000 4 1998 2009
dbSNP: rs1202682161
rs1202682161 		1.000 0.040 18 57674854 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 1.000 4 1998 2009
dbSNP: rs121909098
rs121909098 		0.925 0.040 18 57661207 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 1.000 4 1998 2009
dbSNP: rs140665115
rs140665115 		1.000 0.040 18 57691997 missense variant T/A snv 8.1E-06 1.4E-05
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 1.000 4 1998 2009
dbSNP: rs34719006
rs34719006 		0.882 0.080 18 57706561 missense variant C/A;T snv 1.2E-05; 3.2E-03
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 1.000 4 1998 2009
dbSNP: rs752045131
rs752045131 		1.000 0.040 18 57671518 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 1.000 4 1998 2009
dbSNP: rs541474497
rs541474497 		1.000 0.040 18 57669334 missense variant A/G;T snv 2.9E-05; 2.5E-05
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 0
dbSNP: rs780186596
rs780186596 		0.925 0.040 18 57674855 missense variant G/A;T snv 4.0E-06
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		Digestive System Diseases 0.700 0