rs74315402, PRNP

N. diseases: 7
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 0.882 0.200 20 4699570 missense variant C/T snv 0.780 1.000 8 1997 2019
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.882 0.200 20 4699570 missense variant C/T snv 0.750 1.000 5 1999 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.882 0.200 20 4699570 missense variant C/T snv 0.700 1.000 20 1993 2018
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009