rs2109505, ABCB4

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alanine aminotransferase measurement
CUI: C0201836
Disease: Alanine aminotransferase measurement
77 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.700 1.000 1 2018 2018
Serum Alanine Aminotransferase Measurement
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
77 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.700 1.000 1 2018 2018
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
19 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015
Hepatobiliary cancer
CUI: C3544266
Disease: Hepatobiliary cancer
1 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015
Progressive intrahepatic cholestasis (disorder)
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
10 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015