PRNP, prion protein, 5621

N. diseases: 2; N. variants: 3
Disease: Creutzfeldt-Jakob disease ×
Source: GWASDB ×
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: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.900 1.000 1 1996 2015
dbSNP: rs6107516
rs6107516 		1.000 0.120 20 4696446 intron variant G/A snv 0.23
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.800 1.000 1 2012 2012