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: 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: 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: 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: 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: rs1411970557
rs1411970557 		1.000 0.040 7 87462811 missense variant A/C snv 4.0E-06 7.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 0
dbSNP: rs141677867
rs141677867 		1.000 0.040 7 87423940 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 0
dbSNP: rs1562945221
rs1562945221 		1.000 0.040 7 87402211 frameshift variant -/T delins
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		Digestive System Diseases 0.700 0
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: rs1562976061
rs1562976061 		1.000 0.040 7 87440206 frameshift variant A/- delins
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		Digestive System Diseases 0.700 0
dbSNP: rs375315619
rs375315619 		0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		Digestive System Diseases 0.700 0
dbSNP: rs375315619
rs375315619 		0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs375315619
rs375315619 		0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 0
dbSNP: rs377160065
rs377160065 		0.925 0.040 7 87453005 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs377160065
rs377160065 		0.925 0.040 7 87453005 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		Digestive System Diseases 0.700 0
dbSNP: rs387906526
rs387906526 		1.000 0.040 7 87453080 frameshift variant TATATAG/- delins
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs387906527
rs387906527 		0.925 0.040 7 87439686 frameshift variant A/- del
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs387906527
rs387906527 		0.925 0.040 7 87439686 frameshift variant A/- del
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs387906528
rs387906528 		0.925 0.040 7 87443346 frameshift variant CT/TTG delins
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs387906528
rs387906528 		0.925 0.040 7 87443346 frameshift variant CT/TTG delins
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 0
dbSNP: rs387906529
rs387906529 		1.000 0.040 7 87423947 frameshift variant -/C delins
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs397514620
rs397514620 		1.000 0.040 7 87439765 missense variant G/A;C snv 8.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 0
dbSNP: rs45575636
rs45575636 		0.882 0.080 7 87431528 missense variant C/G;T snv 4.0E-06; 4.5E-03
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs45575636
rs45575636 		0.882 0.080 7 87431528 missense variant C/G;T snv 4.0E-06; 4.5E-03
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.700 0