Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799990
rs1799990
PRNP
0.030 GeneticVariation BEFREE We provide a detailed analysis on clinical presentation and first diagnosis in a large group of patients with sCJD with respect to M129V genotype and prion protein type. 25022936

2014
dbSNP: rs1799990
rs1799990
PRNP
0.030 GeneticVariation BEFREE Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein. 24252157

2013
dbSNP: rs1799990
rs1799990
PRNP
0.030 GeneticVariation BEFREE Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. 17047093

2006