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: rs74315401
rs74315401
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.050 1.000 5 1995 2017
dbSNP: rs74315407
rs74315407
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs74315413
rs74315413
0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005