Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1336432413
rs1336432413
Entrez Id: 9559
Gene Symbol: VPS26A
VPS26A
CUI: C4302185
Disease:
Atypical Parkinsonism
0.020 GeneticVariation BEFREE Retromer dysfunction is associated with neurodegenerative disease, and recently, three VPS26A mutations (p.K93E, p.M112V, and p.K297X) were discovered to be associated with atypical parkinsonism. 27528657 2016
dbSNP: rs1336432413
rs1336432413
Entrez Id: 9559
Gene Symbol: VPS26A
VPS26A
CUI: C4302185
Disease:
Atypical Parkinsonism
0.020 GeneticVariation BEFREE Three VPS26A variants (p.K93E, p.M112V, and p.K297X), identified in patients with atypical parkinsonism, were not observed in controls from this study (n = 368) or from publically available data sets (n = 4,426). 25475142 2015