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: rs113090017
rs113090017 		0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
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 2 2012 2016
dbSNP: rs75061399
rs75061399 		12 100548299 intron variant G/A snv 2.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs879255644
rs879255644 		0.925 0.200 12 100511115 inframe insertion -/AAA delins
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 1 2016 2016
dbSNP: rs113090017
rs113090017 		0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		0.700 0
dbSNP: rs879255644
rs879255644 		0.925 0.200 12 100511115 inframe insertion -/AAA delins
CUI: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		0.700 0
dbSNP: rs113090017
rs113090017 		0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0003962
Disease: Ascites
Ascites 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs113090017
rs113090017 		0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs35724
rs35724 		0.925 0.040 12 100561600 intron variant C/G snv 0.52
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs35724
rs35724 		0.925 0.040 12 100561600 intron variant C/G snv 0.52
CUI: C0860197
Disease: Advanced chronic liver disease
Advanced chronic liver disease 		0.010 1.000 1 2019 2019
dbSNP: rs35724
rs35724 		0.925 0.040 12 100561600 intron variant C/G snv 0.52
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs56163822
rs56163822 		1.000 0.080 12 100493323 5 prime UTR variant G/T snv 4.7E-02 2.8E-02
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs56163822
rs56163822 		1.000 0.080 12 100493323 5 prime UTR variant G/T snv 4.7E-02 2.8E-02
CUI: C0275551
Disease: Primary bacterial peritonitis
Primary bacterial peritonitis 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs61755050
rs61755050 		1.000 0.080 12 100532530 missense variant T/C snv 3.8E-03 3.7E-03
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