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: rs62643364
rs62643364
0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.060 1.000 6 2000 2019
dbSNP: rs1799990
rs1799990
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.020 1.000 2 2006 2008