Variant: rs869312739 

    present in Gene: ACTA1
    present in Chromosome: 1
    Position on Chromosome: 229432295
    Alleles of this Variant: C/A

rs869312739 in ACTA1 gene and MYOPATHY, SCAPULOHUMEROPERONEAL PMID 25938801 2015 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.