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: 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: 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: 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: 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: rs11568372
rs11568372 		0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.710 1.000 1 2004 2004
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: 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: 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: rs72551307
rs72551307 		0.925 0.080 2 168995403 missense variant T/C snv
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2006 2006
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: 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: rs72549402
rs72549402 		0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2007 2019
dbSNP: rs72549398
rs72549398 		0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs886043807
rs886043807 		0.925 0.080 2 168970146 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs563694
rs563694 		2 168917561 intron variant C/A snv 0.75
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 1 2008 2008
dbSNP: rs853778
rs853778 		2 168954714 intron variant T/C snv 0.53
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2009 2009
dbSNP: rs853787
rs853787 		2 168945742 intron variant G/A;T snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2009 2009