PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs181348299
rs181348299
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.010 GeneticVariation BEFREE Furthermore, comparison of fCJD</span>(R148H) with a recently reported case carrying R148H and homozygosity at codon 129 suggests that codon 129 coupled with the mutation as well as that located on the normal allele can modify major phenotypic and PrP(Sc) features of fCJD(R148H). 16314483 2005