Variant: rs182976977 

    present in Gene: COL6A3
    present in Chromosome: 2
    Position on Chromosome: 237333533
    Alleles of this Variant: G/A;C

rs182976977 in COL6A3 gene and DYSTONIA 27 PMID 26004199 2015 Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.