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: 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: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.050 0.800 5 2006 2019
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
dbSNP: rs72549395
rs72549395 		1.000 0.040 2 168927317 missense variant G/A;C snv 1.2E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.800 1.000 4 1998 2014
dbSNP: rs72549399
rs72549399 		1.000 0.040 2 168935296 missense variant C/T snv 4.0E-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: rs72551305
rs72551305 		1.000 0.040 2 168986187 missense variant A/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
dbSNP: rs72551306
rs72551306 		1.000 0.040 2 168993781 missense variant C/A;G snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 1.000 4 1998 2014
dbSNP: rs769910565
rs769910565 		0.882 0.040 2 168968498 splice region variant A/C snv 2.5E-05 5.6E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs11568372
rs11568372 		0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1998 2008
dbSNP: rs16856247
rs16856247 		2 168927903 intron variant C/T snv 6.6E-02
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 3 2011 2019
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.030 0.667 3 2007 2011
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2011 2018
dbSNP: rs10176901
rs10176901 		2 168974151 intron variant G/A snv 0.57
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs11568367
rs11568367 		1.000 0.080 2 168970082 missense variant T/C snv 1.4E-02 2.9E-03
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2007 2009
dbSNP: rs11568372
rs11568372 		0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2007 2009
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: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2011 2012
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.020 1.000 2 2011 2017
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.020 1.000 2 2013 2019
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2011 2012
dbSNP: rs2287622
rs2287622 		0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		Digestive System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs2287623
rs2287623 		2 168973645 intron variant G/A snv 0.57
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2013 2018
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