Variant: rs1057516612 

    present in Gene: PYGM
    present in Chromosome: 11
    Position on Chromosome: 64752493
    Alleles of this Variant: CTCC/TCA

rs1057516612 in PYGM gene and Glycogen Storage Disease Type V PMID 7951211 1994 Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

PMID 25045239 2014 The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.