Variant: rs113993981 

    present in Gene: PYGL
    present in Chromosome: 14
    Position on Chromosome: 50913028
    Alleles of this Variant: C/A;G;T

rs113993981 in PYGL gene and Glycogen Storage Disease Type VI PMID 9536091 1998 Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.