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: 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: 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: rs72552778
rs72552778 		0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.800 1.000 3 2000 2004
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: 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: 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
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: 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: 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: 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: 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: rs142794414
rs142794414 		1.000 0.040 7 87472655 missense variant G/A;T snv 4.8E-04; 8.0E-06; 4.0E-06 1.2E-03
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs571555115
rs571555115 		1.000 0.040 7 87431519 missense variant G/A snv 3.2E-05 2.8E-05
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 1.000 6 2001 2017