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: 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: rs4148808
rs4148808 		7 87476479 intron variant T/C snv 0.19
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1562965036
rs1562965036 		1.000 7 87426770 frameshift variant C/- del
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs72552780
rs72552780 		1.000 7 87453050 stop gained G/A;C snv 8.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs757693457
rs757693457 		1.000 7 87453031 missense variant C/T snv 8.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs764513998
rs764513998 		1.000 7 87406287 splice donor variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs72552778
rs72552778 		0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		Digestive System Diseases 0.700 1.000 10 2001 2016
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: 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
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: rs372476723
rs372476723 		1.000 0.040 7 87431409 missense variant T/C snv 2.0E-05 3.5E-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: rs72552778
rs72552778 		0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
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: rs765478923
rs765478923 		0.925 0.040 7 87447182 missense variant G/A snv 1.6E-05 2.8E-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: rs8187788
rs8187788 		0.925 0.040 7 87462827 missense variant G/C snv 7.2E-04 7.3E-04
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: rs72552778
rs72552778 		0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.810 1.000 7 2001 2017
dbSNP: rs8187797
rs8187797 		1.000 0.040 7 87439814 missense variant C/G snv 2.1E-03 8.7E-03
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.710 1.000 7 2001 2017