rs12948217(A;T)

Carrier of a Canavan disease mutation

Magnitude
3.0Important
Repute
Bad
On SNPedia
rs12948217(A;T)
Gene
ASPA

Other genotypes of rs12948217

  1. A;AMost notableBadCanavan disease (predicted); note issue with microarray data thoughVery important · 8.0
  2. A;CBadCarrier of a Canavan disease mutation; note issue with microarray data thoughImportant · 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

Unaffected in absence of a second ASPA gene mutation.

Source and license

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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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