rs1800312
A SNP in the GAA gene on chromosome 17. Its most notable genotype is C;C: Glycogen storage disease, type II
- Gene
- GAA
- Location
- Chr 1780,117,016 (GRCh38)
- Highest magnitude
- 6.8Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadGlycogen storage disease, type II
- C;GBadCarrier of a pathogenic mutation for glycogen storage disease, type II
- G;GGoodcommon/normal
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GAA SNPs
- 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
- rs143523371A;GCarrier of a glycogen storage disease II mutationImportant
Notes
From SNPedia
Notes
GAA gene, c.2238G>C (p.Trp746Cys) The minor allele is reported in ClinVar as pathogenic for glycogen storage disease, type II, a recessively inherited condition.
C;C
see discussion
C;G
Unaffected unless carrying another pathogenic mutation in the GAA gene
Source and license
Adapted from rs1800312 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.