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: rs1562945221
rs1562945221
ABCB4
1.000 0.040 7 87402211 frameshift variant -/T delins
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.700 0
dbSNP: rs764513998
rs764513998
ABCB4
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: rs121918442
rs121918442
ABCB4
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 		0.710 1.000 7 2001 2017
dbSNP: rs1262922848
rs1262922848
ABCB4
1.000 0.040 7 87408066 missense variant G/A snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 1.000 6 2001 2017
dbSNP: rs1214110864
rs1214110864
ABCB4
1.000 0.040 7 87408071 missense variant A/T snv
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.010 1.000 1 2007 2007
dbSNP: rs1214110864
rs1214110864
ABCB4
1.000 0.040 7 87408071 missense variant A/T snv
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.010 1.000 1 2007 2007
dbSNP: rs759202962
rs759202962
ABCB4
0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs759202962
rs759202962
ABCB4
0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs759202962
rs759202962
ABCB4
0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		0.700 0
dbSNP: rs56187107
rs56187107
ABCB4
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 		0.700 1.000 9 1998 2017
dbSNP: rs1051861187
rs1051861187
ABCB4
0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187
ABCB4
0.827 0.080 7 87409385 missense variant A/G snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.710 1.000 1 2019 2019
dbSNP: rs1051861187
rs1051861187
ABCB4
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 		0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187
ABCB4
0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187
ABCB4
0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1051861187
rs1051861187
ABCB4
0.827 0.080 7 87409385 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs759787957
rs759787957
ABCB4
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 		0.700 1.000 6 2001 2017
dbSNP: rs121918440
rs121918440
ABCB4
0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		0.700 1.000 2 1998 2018
dbSNP: rs121918440
rs121918440
ABCB4
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 		0.700 0
dbSNP: rs121918440
rs121918440
ABCB4
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: rs779829759
rs779829759
ABCB4
1.000 0.040 7 87411957 missense variant C/T snv 4.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs147134978
rs147134978
ABCB4
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 		0.700 1.000 9 1998 2017
dbSNP: rs970324585
rs970324585
ABCB4
1.000 0.040 7 87423931 missense variant G/A snv
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 0
dbSNP: rs141677867
rs141677867
ABCB4
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 		0.700 0
dbSNP: rs387906529
rs387906529
ABCB4
1.000 0.040 7 87423947 frameshift variant -/C delins
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0