Variant: rs1400127478 

    present in Gene: VPS13A
    present in Chromosome: 9
    Position on Chromosome: 77351405
    Alleles of this Variant: T/C

rs1400127478 in VPS13A gene and Chorea Acanthocytosis Syndrome PMID 12404112 2002 Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

PMID 11381253 2001 A conserved sorting-associated protein is mutant in chorea-acanthocytosis.