Variant: rs1057517001 

    present in Gene: RASGRP2;PYGM
    present in Chromosome: 11
    Position on Chromosome: 64746948
    Alleles of this Variant: G/A;T

rs1057517001 in RASGRP2;PYGM gene and Glycogen Storage Disease Type V PMID 17221871 2007 A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.