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: rs74315407
rs74315407
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia
Infections; Nervous System Diseases 0.010 1.000 1 2001 2001