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: rs74315409
rs74315409
0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2003 2003