rs121907943
A SNP in the GAA gene on chromosome 17. Its most notable genotype is T;T: Glycogen storage disease II (predicted)
- Gene
- GAA
- Location
- Chr 1780,118,271 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadCarrier of a glycogen storage disease II mutation
- T;TMost notableBadGlycogen storage disease II (predicted)
On SNPedia: (C;C), (C;T), (T;T). 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
- 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
Notes
aka c.2560C>T (p.Arg854Ter or R854X) Historically, this mutation is considered most prevalent among African Americans.
C;T
Unaffected in absence of a second GAA gene mutation
T;T
see text and links via main rs-page
Source and license
Adapted from rs121907943 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.