Variant: rs1057519344 

    present in Gene: COQ8A
    present in Chromosome: 1
    Position on Chromosome: 226983549
    Alleles of this Variant: -/GTA

rs1057519344 in COQ8A gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 PMID 24164873 2013 Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.