Rs28940868

rs28940868, also known as Arg645Glu, is a SNP in the glucosidase alpha acid GAA gene. Mutations in this gene are potentially associated with glycogen storage disease II, which can also be known as Pompe disease. Over 300 mutations in this gene have been identified, so this SNP represents just one of them.

rs28940868(A) represents the SNP (ie mutation in this case) most commonly found in infants from Taiwan diagnosed with Pompe disease.