Variant: rs121909529 

    present in Gene: ACTA1
    present in Chromosome: 1
    Position on Chromosome: 229431830
    Alleles of this Variant: T/A

rs121909529 in ACTA1 gene and Congenital Fiber Type Disproportion PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 17387733 2007 The pathogenesis of ACTA1-related congenital fiber type disproportion.