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: 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: 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: 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: rs853789
rs853789 		2 168944978 intron variant A/G;T snv 0.75
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2018
dbSNP: rs10176901
rs10176901 		2 168974151 intron variant G/A snv 0.57
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs10177080
rs10177080 		2 168974288 intron variant G/A snv 0.53
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
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: rs11568373
rs11568373 		2 168944893 synonymous variant T/C snv 5.8E-03 2.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568373
rs11568373 		2 168944893 synonymous variant T/C snv 5.8E-03 2.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568373
rs11568373 		2 168944893 synonymous variant T/C snv 5.8E-03 2.6E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1382100120
rs1382100120 		1.000 0.040 2 168993817 missense variant G/A snv 4.1E-06
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1382897404
rs1382897404 		0.851 0.040 2 169018071 missense variant C/G snv 7.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1382897404
rs1382897404 		0.851 0.040 2 169018071 missense variant C/G snv 7.0E-06
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1382897404
rs1382897404 		0.851 0.040 2 169018071 missense variant C/G snv 7.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1382897404
rs1382897404 		0.851 0.040 2 169018071 missense variant C/G snv 7.0E-06
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs138642043
rs138642043 		2 168964291 missense variant C/T snv 3.4E-03 4.9E-03
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1478060232
rs1478060232 		0.925 0.040 2 168969407 missense variant T/C snv
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1478060232
rs1478060232 		0.925 0.040 2 168969407 missense variant T/C snv
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs16856247
rs16856247 		2 168927903 intron variant C/T snv 6.6E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011
dbSNP: rs16856314
rs16856314 		2 168966582 intron variant G/A snv 3.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16856314
rs16856314 		2 168966582 intron variant G/A snv 3.0E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16856314
rs16856314 		2 168966582 intron variant G/A snv 3.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012