rs1057517291

A SNP in the SPATA22 gene on chromosome 17. Its most notable genotype is T;T: Canavan disease (predicted)

Gene
SPATA22
Location
Chr 173,481,602 (GRCh38)
Highest magnitude
8.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TBadCarrier of a Canavan disease mutationImportant · 3.0
  3. T;TMost notableBadCanavan disease (predicted)Very important · 8.0

On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other SPATA22 SNPs

All SPATA22 SNPs

Notes

From SNPedia

Notes

G;T

Unaffected in absence of a second ASPA gene mutation.

T;T

See discussion at Canavan disease and links via main SNP page.

Source and license

Adapted from rs1057517291 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.