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: rs747019990
rs747019990
0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2014 2014