PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933385
rs28933385
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.100 1.000 15 1996 2017
dbSNP: rs74315403
rs74315403
0.790 0.200 20 4699752 missense variant G/A snv
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 1995 2005
dbSNP: rs74315408
rs74315408
0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2009 2013
dbSNP: rs74315409
rs74315409
0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2019
dbSNP: rs1191139947
rs1191139947
0.882 0.120 20 4699935 missense variant C/T snv
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1800014
rs1800014
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs372878791
rs372878791
1.000 0.120 20 4699783 missense variant C/G;T snv 3.2E-05; 4.0E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs74315407
rs74315407
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs74315412
rs74315412
0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs751882709
rs751882709
0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010