rs74315413, PRNP

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.
Gerstmann-Straussler-Scheinker Disease
39 0.807 0.160 20 4699780 missense variant A/G snv 0.820 1.000 13 1989 2018
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.807 0.160 20 4699780 missense variant A/G snv 0.720 1.000 2 2000 2010
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
3 0.807 0.160 20 4699780 missense variant A/G snv 0.700 0
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2004 2004
Dementia
CUI: C0497327
Disease: Dementia
176 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2005 2005
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2000 2000
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2004 2004
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2005 2005