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: rs66904256
rs66904256 		0.882 0.080 7 87439777 missense variant T/A snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.710 1.000 10 1998 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: rs147134978
rs147134978 		1.000 0.040 7 87423907 missense variant G/A;T snv 3.6E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs56187107
rs56187107 		1.000 0.040 7 87409370 missense variant C/T snv 8.0E-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: rs72552773
rs72552773 		1.000 0.040 7 87423985 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs72552777
rs72552777 		1.000 0.040 7 87443709 missense variant T/C snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs72552781
rs72552781 		1.000 0.040 7 87453068 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs748657435
rs748657435 		1.000 0.040 7 87440323 missense variant G/A;C snv 8.0E-06; 4.0E-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: 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: 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: rs1408217402
rs1408217402 		1.000 0.040 7 87454583 missense variant G/A snv 4.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs66904256
rs66904256 		0.882 0.080 7 87439777 missense variant T/A snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs72552776
rs72552776 		1.000 0.040 7 87431525 missense variant A/T snv 4.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs72552779
rs72552779 		1.000 0.040 7 87447137 missense variant A/G snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs759787957
rs759787957 		1.000 0.040 7 87411894 missense variant G/C snv 4.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs761238221
rs761238221 		1.000 0.040 7 87439752 missense variant C/A;T snv 8.0E-06; 3.6E-05
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
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: 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: 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: 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