rs74315403, PRNP

N. diseases: 10
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.
Fatal Familial Insomnia
CUI: C0206042
Disease: Fatal Familial Insomnia
16 0.790 0.200 20 4699752 missense variant G/A snv 0.800 0.972 36 1992 2019
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.790 0.200 20 4699752 missense variant G/A snv 0.800 0.955 22 1990 2015
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.790 0.200 20 4699752 missense variant G/A snv 0.800 1.000 14 2002 2019
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.790 0.200 20 4699752 missense variant G/A snv 0.030 1.000 3 1995 2005
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.790 0.200 20 4699752 missense variant G/A snv 0.020 1.000 2 2010 2019
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 2009 2009
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 2005 2005
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 2005 2005
Gerstmann-Straussler-Scheinker Disease
39 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 1998 1998
Sleeplessness
CUI: C0917801
Disease: Sleeplessness
30 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 2009 2009