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: rs1014283
rs1014283 		7 87447271 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1014283
rs1014283 		7 87447271 intron variant C/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1021988376
rs1021988376 		1.000 0.040 7 87453103 missense variant C/T snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs1051861187
rs1051861187 		0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187 		0.827 0.080 7 87409385 missense variant A/G snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs1051861187
rs1051861187 		0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187 		0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187 		0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187 		0.827 0.080 7 87409385 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs1149222
rs1149222 		1.000 0.080 7 87444459 intron variant G/T snv 0.67
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1202283
rs1202283 		1.000 0.080 7 87452976 synonymous variant G/A snv 0.48 0.41
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs1214110864
rs1214110864 		1.000 0.040 7 87408071 missense variant A/T snv
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1214110864
rs1214110864 		1.000 0.040 7 87408071 missense variant A/T snv
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2007 2007
dbSNP: rs121918440
rs121918440 		0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		Digestive System Diseases 0.700 1.000 2 1998 2018
dbSNP: rs121918440
rs121918440 		0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs121918440
rs121918440 		0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs121918441
rs121918441 		1.000 7 87439761 missense variant G/T snv 4.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 1.000 3 2000 2004
dbSNP: rs121918442
rs121918442 		1.000 0.040 7 87406293 missense variant G/A;T snv 2.4E-05
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.710 1.000 7 2001 2017
dbSNP: rs121918443
rs121918443 		1.000 0.040 7 87443686 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.800 1.000 9 1998 2017
dbSNP: rs1257887155
rs1257887155 		0.925 0.040 7 87440228 missense variant C/T snv 7.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs1257887155
rs1257887155 		0.925 0.040 7 87440228 missense variant C/T snv 7.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs1262922848
rs1262922848 		1.000 0.040 7 87408066 missense variant G/A snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs1263565476
rs1263565476 		1.000 0.040 7 87443405 missense variant T/C snv 1.4E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs1343667900
rs1343667900 		1.000 0.040 7 87462842 missense variant C/T snv 4.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs138773456
rs138773456 		1.000 0.040 7 87423973 missense variant G/A snv 5.9E-04 7.2E-04
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017