rs28940868(A;C)

Carrier for Pompe disease

Magnitude
3.0Important
Repute
Not rated
On SNPedia
rs28940868(A;C)
Gene
GAA

Other genotypes of rs28940868

  1. A;AMost notableBadlikely to have Pompe diseaseVery important · 5.0
  2. C;CGoodnormalTypical · 0.0

All about rs28940868

Notes

From SNPedia

Unaffected in absence of a second mutation in the GAA gene. rs28940868(A) is the SNP found in most infants with Pompe disease from Taiwan PMID 9554747

References

Source and license

Adapted from rs28940868(A;C) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.