rs74315409, PRNP

N. diseases: 13
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.
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.770 1.000 18 1990 2013
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.730 1.000 3 2010 2013
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.020 1.000 2 2008 2019
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.020 1.000 2 2003 2010
Dementia
CUI: C0497327
Disease: Dementia
176 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2002 2002
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2013 2013
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2003 2003
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
10 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2003 2003
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2009 2009
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2009 2009
Rapidly progressive dementia
CUI: C1847651
Disease: Rapidly progressive dementia
4 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 1996 1996
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
21 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2003 2003
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2003 2003