rs1057516879
A SNP in the ASPA gene on chromosome 17. Its most notable genotype is C;C: Canavan disease (predicted)
- Gene
- ASPA
- Location
- Chr 173,476,161 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadCanavan disease (predicted)
- C;TBadCarrier of a Canavan disease mutation
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). 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
- rs28940574A;ACanavan 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
Notes
From SNPedia
Notes
C;C
See discussion at Canavan disease and links via main SNP page.
C;T
Unaffected in absence of a second ASPA gene mutation.
Source and license
Adapted from rs1057516879 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.