Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761807915
rs761807915
PRNP
0.020 GeneticVariation BEFREE In this study we generated prion protein fragment 90-231 bearing mutations identified in familial prion diseases (D202N and E200K), to analyze their role in the induction of a neurotoxic conformation. 21094273

2011
dbSNP: rs761807915
rs761807915
PRNP
0.020 GeneticVariation BEFREE Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates. 17873292

2007