rs1042395
A SNP in the GAA gene on chromosome 17. Its most notable genotype is G;G: common in clinvar
- Gene
- GAA
- Location
- Chr 1780,105,870 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- AncestryDNA
- Minor allele frequency
- 39%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageG;G 18%
- European ancestry (Utah)G;G 6%
- Han Chinese (Beijing)G;G 14%
- Japanese (Tokyo)G;G 25%
- Yoruba (Nigeria)G;G 33%
- African ancestry (Southwest US)G;G 19%
- Chinese (Denver)G;G 23%
- Gujarati IndianG;G 13%
- Luhya (Kenya)G;G 23%
- Mexican ancestry (Los Angeles)G;G 24%
- Maasai (Kenya)G;G 14%
- TuscanG;G 5%
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 rs1042395 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.