rs1042393
A SNP in the GAA gene on chromosome 17. Its most notable genotype is A;A: common in clinvar
- Gene
- GAA
- Location
- Chr 1780,105,798 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 38%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 2 HapMap populations.
- AverageA;A 16%
- European ancestry (Utah)A;A 2%
- Yoruba (Nigeria)A;A 30%
Related
Other GAA SNPs
- rs1800312C;CGlycogen storage disease, type IIVery important
- rs28940868A;Alikely to have Pompe diseaseVery 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
Source and license
Adapted from rs1042393 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.