rs372805579, CARD14

N. diseases: 5
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.
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 1999 2013
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2013 2013
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2010 2010
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 1999 1999
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 1999 1999