Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315402
rs74315402
0.750 GeneticVariation BEFREE Familial forms of human prion disease include those associated with the mutations G114V and A117V, which lie in the hydrophobic domain of PrP. 24352465

2014

dbSNP: rs74315402
rs74315402
0.750 GeneticVariation BEFREE We conclude that GSS A117V is indeed a pr</span>ion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established. 24086135

2013

dbSNP: rs74315402
rs74315402
0.750 GeneticVariation BEFREE Molecular dynamics calculations demonstrated the conformational change in the prion protein due to Ala(117)-->Val mutation, which is related to Gerstmann-Sträussler-Sheinker disease, one of the familial prion diseases. 11964260

2002

dbSNP: rs74315402
rs74315402
0.750 GeneticVariation BEFREE Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family. 11385020

2001

dbSNP: rs74315402
rs74315402
0.750 GeneticVariation BEFREE Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. 10506086

1999

dbSNP: rs74315402
rs74315402
T 0.750 CausalMutation CLINVAR