Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799990
rs1799990
PRNP
0.020 GeneticVariation BEFREE In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180. 26022925

2015
dbSNP: rs1799990
rs1799990
PRNP
0.020 GeneticVariation BEFREE Our proband was MM homozygous for the M129V polymorphism within the prion protein gene (PRNP), a known risk factor for CJD. 18236005

2008