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: rs1799990
rs1799990
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
New Variant Creutzfeldt-Jakob Disease
Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2006 2013
dbSNP: rs1800014
rs1800014
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
New Variant Creutzfeldt-Jakob Disease
Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010