Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138773456
rs138773456
ABCB4
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 		0.700 1.000 9 1998 2017
dbSNP: rs72552773
rs72552773
ABCB4
1.000 0.040 7 87423985 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 1.000 9 1998 2017
dbSNP: rs988987669
rs988987669
ABCB4
1.000 0.040 7 87424015 missense variant A/G snv 4.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs1562965036
rs1562965036
ABCB4
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: rs2230028
rs2230028
ABCB4
0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2010 2010
dbSNP: rs2230028
rs2230028
ABCB4
0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.010 1.000 1 2009 2009
dbSNP: rs2230028
rs2230028
ABCB4
0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.010 1.000 1 2009 2009
dbSNP: rs2230028
rs2230028
ABCB4
0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.010 1.000 1 2010 2010
dbSNP: rs2230028
rs2230028
ABCB4
0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.010 1.000 1 2009 2009
dbSNP: rs972726699
rs972726699
ABCB4
1.000 0.040 7 87426875 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 0
dbSNP: rs31672
rs31672
ABCB4
1.000 0.080 7 87430383 intron variant C/T snv 0.67
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2008 2008
dbSNP: rs372476723
rs372476723
ABCB4
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 		0.700 1.000 9 1998 2017
dbSNP: rs571555115
rs571555115
ABCB4
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 		0.700 1.000 6 2001 2017
dbSNP: rs72552776
rs72552776
ABCB4
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 		0.700 1.000 6 2001 2017
dbSNP: rs45575636
rs45575636
ABCB4
0.882 0.080 7 87431528 missense variant C/G;T snv 4.0E-06; 4.5E-03
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.010 1.000 1 2009 2009
dbSNP: rs45575636
rs45575636
ABCB4
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
ABCB4
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 		0.700 0
dbSNP: rs387906527
rs387906527
ABCB4
0.925 0.040 7 87439686 frameshift variant A/- del
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs387906527
rs387906527
ABCB4
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: rs761238221
rs761238221
ABCB4
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 		0.700 1.000 6 2001 2017
dbSNP: rs121918441
rs121918441
ABCB4
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: rs397514620
rs397514620
ABCB4
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 		0.700 0
dbSNP: rs66904256
rs66904256
ABCB4
0.882 0.080 7 87439777 missense variant T/A snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.710 1.000 10 1998 2017
dbSNP: rs66904256
rs66904256
ABCB4
0.882 0.080 7 87439777 missense variant T/A snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 1.000 6 2001 2017
dbSNP: rs66904256
rs66904256
ABCB4
0.882 0.080 7 87439777 missense variant T/A snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009