rs28940279(A;C)

Carrier of a Canavan disease mutation

Magnitude
3.0Important
Repute
Bad
On SNPedia
rs28940279(A;C)
Gene
ASPA

Other genotypes of rs28940279

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. C;CMost notableBadCanavan disease (predicted)Very important · 8.0

All about rs28940279

Notes

From SNPedia

Unaffected in absence of a second ASPA gene mutation.

Source and license

Adapted from rs28940279(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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.