Disease: Cholestasis, benign recurrent intrahepatic 2 ×
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: rs121908935
rs121908935 		1.000 0.040 2 168976590 missense variant C/G snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.810 1.000 2 2004 2005
dbSNP: rs11568372
rs11568372 		0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs72549398
rs72549398 		0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs72549400
rs72549400 		1.000 0.040 2 168936268 missense variant C/G snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs72551307
rs72551307 		0.925 0.080 2 168995403 missense variant T/C snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs756220860
rs756220860 		1.000 0.040 2 168930693 missense variant C/T snv 4.2E-06 1.4E-05
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs777469571
rs777469571 		1.000 0.040 2 168936277 missense variant T/C;G snv 4.0E-06
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs1060499579
rs1060499579 		0.925 0.040 2 168944925 stop gained G/A;T snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 0
dbSNP: rs188824058
rs188824058 		0.882 0.040 2 168972025 missense variant C/T snv 9.3E-05 1.3E-04
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 0
dbSNP: rs769910565
rs769910565 		0.882 0.040 2 168968498 splice region variant A/C snv 2.5E-05 5.6E-05
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 0
dbSNP: rs886043807
rs886043807 		0.925 0.080 2 168970146 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		Digestive System Diseases 0.700 0