rs28940574
A SNP in the ASPA gene on chromosome 17. Its most notable genotype is A;A: Canavan disease (predicted)
- Gene
- ASPA
- Location
- Chr 173,499,060 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadCanavan disease (predicted)
- A;CBadCarrier of a Canavan disease mutation
- C;CGoodcommon in clinvar
On SNPedia: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ASPA SNPs
- rs12948217A;ACanavan disease (predicted); note issue with microarray data thoughVery important
- rs28940279C;CCanavan disease (predicted)Very important
- rs104894548C;CCanavan disease (predicted)Very important
- rs104894549A;ACanavan disease (predicted)Very important
- rs104894550G;GCanavan disease (predicted)Very important
- rs104894551G;GCanavan disease (predicted)Very important
- rs104894552T;TCanavan disease (predicted)Very important
- rs199565861T;TCanavan disease (predicted)Very important
Notes
From SNPedia
Notes
rs28940574, also known as c.914C>A, A305E or p.Ala305Glu, is a SNP in the ASPA gene. rs28940574 is one of several known causal SNPs of Canavan disease. OMIM reports that in non-Jewish patients of European origin, the A305E mutation accounts for 50% of Canavan disease-associated alleles. FTDNA & MyHeritage name: VG17S16802
A;A
see discussion at Canavan disease and links via the main SNP page
A;C
Unaffected in absence of a second ASPA gene mutation.
Source and license
Adapted from rs28940574 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.