Variant: rs387907033 

    present in Gene: SYT14
    present in Chromosome: 1
    Position on Chromosome: 210155872
    Alleles of this Variant: G/A;C

rs387907033 in SYT14 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 PMID 21835308 2011 Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.