rs1800014, PRNP

N. diseases: 11
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 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.070 1.000 7 1998 2015
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 1998 2015
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 2000 2015
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 2009 2015
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.020 1.000 2 2009 2011
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.020 1.000 2 1997 2015
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2010 2010
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2010 2010
Fatal Familial Insomnia
CUI: C0206042
Disease: Fatal Familial Insomnia
16 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2003 2003
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2000 2000
New Variant Creutzfeldt-Jakob Disease
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
2 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2010 2010