rs72549398, ABCB11

N. diseases: 8
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.
Cholestasis, benign recurrent intrahepatic 2
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
11 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2004 2005
Abnormal liver function tests during pregnancy
CUI: C4021883
Disease: Abnormal liver function tests during pregnancy
1 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
Intrahepatic Cholestasis
CUI: C0008372
Disease: Intrahepatic Cholestasis
3 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
Pruritus
CUI: C0033774
Disease: Pruritus
2 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
Benign recurrent intrahepatic cholestasis
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
1 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
24 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2007 2007
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
19 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
Progressive intrahepatic cholestasis (disorder)
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
10 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019