rs11887534, ABCG5;ABCG8

N. diseases: 29
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.
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
62 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 11 2007 2018
Biliary calculi
CUI: C0242216
Disease: Biliary calculi
31 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.700 1.000 4 2007 2019
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2010 2019
Massive Osteolyses
CUI: C0029438
Disease: Massive Osteolyses
11 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2010 2019