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: 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: rs1060499579
rs1060499579 		0.925 0.040 2 168944925 stop gained G/A;T snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs11568372
rs11568372 		0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs1274558905
rs1274558905 		1.000 0.040 2 168973768 missense variant T/C snv 4.0E-06
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs1553469602
rs1553469602 		1.000 0.040 2 168990800 splice donor variant C/- delins
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs1558898789
rs1558898789 		1.000 0.040 2 168973733 stop gained A/T snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs1558927163
rs1558927163 		1.000 0.040 2 169013282 frameshift variant T/- delins
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial 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: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial 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: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		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: rs376216286
rs376216286 		1.000 0.040 2 168964298 missense variant G/A;T snv 4.5E-05; 2.8E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs387906354
rs387906354 		1.000 0.040 2 169014300 splice region variant T/G snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs387907317
rs387907317 		1.000 0.040 2 168923820 frameshift variant -/G delins 1.2E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs72549397
rs72549397 		1.000 0.040 2 168932421 stop gained G/A snv 2.3E-05 7.0E-06
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs72549398
rs72549398 		0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		Digestive System Diseases 0.700 0
dbSNP: rs72549398
rs72549398 		0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0033774
Disease: Pruritus
Pruritus 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs72549398
rs72549398 		0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4021883
Disease: Abnormal liver function tests during pregnancy
Abnormal liver function tests during pregnancy 		0.700 0
dbSNP: rs72549401
rs72549401 		1.000 0.040 2 168970131 stop gained G/A snv 4.0E-05 1.3E-04
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 0
dbSNP: rs752919965
rs752919965 		1.000 0.040 2 168936256 frameshift variant -/ATCTC delins 8.0E-06 1.4E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial 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: rs769910565
rs769910565 		0.882 0.040 2 168968498 splice region variant A/C snv 2.5E-05 5.6E-05
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		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
dbSNP: rs72549402
rs72549402 		0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.800 1.000 11 1998 2015
dbSNP: rs369860506
rs369860506 		1.000 0.040 2 168973734 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 1.000 4 1998 2014
dbSNP: rs72549394
rs72549394 		1.000 0.040 2 168923785 missense variant C/T snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 1.000 4 1998 2014