rs74315405, PRNP

N. diseases: 6
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 0.827 0.160 20 4699813 missense variant T/C snv 0.880 1.000 19 1989 2019
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.827 0.160 20 4699813 missense variant T/C snv 0.720 0.500 2 1996 2016
HUNTINGTON DISEASE-LIKE 1
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
4 0.827 0.160 20 4699813 missense variant T/C snv 0.700 1.000 8 1992 2015
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.827 0.160 20 4699813 missense variant T/C snv 0.010 1.000 1 1998 1998
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.827 0.160 20 4699813 missense variant T/C snv 0.010 1.000 1 1998 1998
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.827 0.160 20 4699813 missense variant T/C snv 0.010 1.000 1 1998 1998