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: rs4148808
rs4148808
ABCB4
7 87476479 intron variant T/C snv 0.19
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		0.700 1.000 1 2018 2018
dbSNP: rs142794414
rs142794414
ABCB4
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 		0.700 1.000 6 2001 2017
dbSNP: rs372685632
rs372685632
ABCB4
1.000 0.040 7 87462904 missense variant C/T snv 8.8E-05 6.3E-05
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.010 1.000 1 2019 2019
dbSNP: rs1343667900
rs1343667900
ABCB4
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 		0.700 0
dbSNP: rs780641693
rs780641693
ABCB4
1.000 0.040 7 87462832 missense variant A/T snv 4.0E-06
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 0
dbSNP: rs8187788
rs8187788
ABCB4
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 		0.700 1.000 9 1998 2017
dbSNP: rs8187788
rs8187788
ABCB4
0.925 0.040 7 87462827 missense variant G/C snv 7.2E-04 7.3E-04
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.700 1.000 6 2001 2017
dbSNP: rs1411970557
rs1411970557
ABCB4
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 		0.700 0
dbSNP: rs1408217402
rs1408217402
ABCB4
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 		0.700 1.000 6 2001 2017
dbSNP: rs1021988376
rs1021988376
ABCB4
1.000 0.040 7 87453103 missense variant C/T snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs387906526
rs387906526
ABCB4
1.000 0.040 7 87453080 frameshift variant TATATAG/- delins
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs72552781
rs72552781
ABCB4
1.000 0.040 7 87453068 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: rs72552780
rs72552780
ABCB4
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
ABCB4
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: rs377160065
rs377160065
ABCB4
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
ABCB4
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 		0.700 0
dbSNP: rs1202283
rs1202283
ABCB4
1.000 0.080 7 87452976 synonymous variant G/A snv 0.48 0.41
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.010 1.000 1 2009 2009
dbSNP: rs58238559
rs58238559
ABCB4
0.882 0.120 7 87452957 missense variant T/C snv 1.1E-02 9.2E-03
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2010 2010
dbSNP: rs58238559
rs58238559
ABCB4
0.882 0.120 7 87452957 missense variant T/C snv 1.1E-02 9.2E-03
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.010 1.000 1 2010 2010
dbSNP: rs58238559
rs58238559
ABCB4
0.882 0.120 7 87452957 missense variant T/C snv 1.1E-02 9.2E-03
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2015 2015
dbSNP: rs753318087
rs753318087
ABCB4
1.000 0.040 7 87451729 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0
dbSNP: rs2109505
rs2109505
ABCB4
0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.010 1.000 1 2015 2015
dbSNP: rs2109505
rs2109505
ABCB4
0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22
CUI: C3544266
Disease: Hepatobiliary cancer
Hepatobiliary cancer 		0.010 1.000 1 2015 2015
dbSNP: rs2109505
rs2109505
ABCB4
0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2109505
rs2109505
ABCB4
0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2018 2018