Variant: rs104894030 

    present in Gene: DBNL;PGAM2
    present in Chromosome: 7
    Position on Chromosome: 44065264
    Alleles of this Variant: T/G

rs104894030 in DBNL;PGAM2 gene and Glycogen storage disease type X PMID 8447317 1993 The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

PMID 10545043 1999 Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.