rs386834236
A SNP in the GAA gene on chromosome 17. Its most notable genotype is G;G: Likely to have Pompe disease
- Gene
- GAA
- Location
- Chr 1780,104,542 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GMost notableBadLikely to have Pompe disease
- G;TBadUnaffected carrier of a Pompe disease (adult onset GSD II) mutation
- T;TGoodcommon in clinvar
On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
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
- 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.-32-13T>G rs386834236, also known as c.-32-13T>G, is an intronic variant in the GAA gene on chromosome 17. Inherited recessively, this variant accounts for 36% - 90% of late-onset Pompe disease, also known as (adult-onset) glycogen storage disease type II. See also: OMIM 606800.0006
G;G
See discussion and links via main rs-page.
G;T
Unaffected in absence of a second GAA gene mutation; see text on main rs-page.
Source and license
Adapted from rs386834236 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.