rs1057516659
A SNP in the GAA gene on chromosome 17. Its most notable genotype is -;G: Carrier of a glycogen storage disease type 2 mutation
- Gene
- GAA
- Location
- Chr 1780,117,020 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;GMost notableBadCarrier of a glycogen storage disease type 2 mutation
On SNPedia: (-;-), (-;G). 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
- 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
Notes
From SNPedia
Notes
aka c.2242dup
-;G
Unaffected in absence of a second GAA gene mutation; see text and links via main rs-page
Source and license
Adapted from rs1057516659 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.