Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519344
rs1057519344
COQ8A
CAGT 0.700 CausalMutation CLINVAR Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 24164873

2013