rs74315408, PRNP

N. diseases: 16
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 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.900 1.000 27 1990 2019
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.740 1.000 11 1993 2018
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.030 1.000 3 2009 2013
Variably protease sensitive prionopathy
CUI: C4303527
Disease: Variably protease sensitive prionopathy
1 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.020 0.500 2 2018 2019
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2019 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2019 2019
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2018 2018
Forgetful
CUI: C0542476
Disease: Forgetful
18 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2013 2013
Hereditary Hyperexplexia
CUI: C1835614
Disease: Hereditary Hyperexplexia
2 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2012 2012
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2016 2016
Pseudobulbar affect
CUI: C2316460
Disease: Pseudobulbar affect
1 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2012 2012
Sleeplessness
CUI: C0917801
Disease: Sleeplessness
30 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2013 2013