Variant: rs1055945806 

    present in Gene: GAA
    present in Chromosome: 17
    Position on Chromosome: 80104552
    Alleles of this Variant: C/A;T

rs1055945806 in GAA gene and Glycogen storage disease type II PMID 19588081 2009 Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

PMID 18429042 2008 Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.