rs12948217(A;A)

Canavan disease (predicted); note issue with microarray data though

Magnitude
8.0Very important
Repute
Bad
On SNPedia
rs12948217(A;A)
Gene
ASPA

Other genotypes of rs12948217

  1. A;CBadCarrier of a Canavan disease mutation; note issue with microarray data thoughImportant · 3.0
  2. A;TBadCarrier of a Canavan disease mutationImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. C;TGoodNo summary available.Typical · 0.0
  5. T;TGoodNo summary available.Typical · 0.0

All about rs12948217

Notes

From SNPedia

See discussion at Canavan disease and links via main SNP page. Note: several years ago, certain genotyping companies may have routinely misreported results for this SNP, and so an abundance of caution is recommended for anyone receiving this genotype in their raw data.

Source and license

Adapted from rs12948217(A;A) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.