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: rs28933385
rs28933385
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010