rs28940868
A SNP in the GAA gene on chromosome 17. Its most notable genotype is A;A: likely to have Pompe disease
- Gene
- GAA
- Location
- Chr 1780,112,922 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GAA SNPs
- rs1800312C;CGlycogen storage disease, type IIVery important
- rs121907943T;TGlycogen storage disease II (predicted)Very important
- rs386834236G;GLikely to have Pompe diseaseVery important
- rs28937909A;GCarrier of a glycogen storage disease II mutationImportant
- rs121907936C;TCarrier of a GAA gene mutation likely to be pathogenic (for Pompe disease)Important
- rs121907939-;AAGCarrier of a glycogen storage disease II mutationImportant
- rs121907945A;GCarrier of a glycogen storage disease II mutationImportant
- rs143523371A;GCarrier of a glycogen storage disease II mutationImportant
Notes
From SNPedia
Show notes, about 120 words
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.
A;A
rs28940868(A;A) homozygotes are the most common genotypes found in infants from Taiwan with Pompe disease.PMID 9554747
A;C
Unaffected in absence of a second mutation in the GAA gene. rs28940868(A) is the SNP found in most infants with Pompe disease from Taiwan PMID 9554747
References
Source and license
Adapted from rs28940868 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.