i4000446

A SNP in the TOR1A gene on chromosome 9. Its most notable genotype is D;D: Torsion dystonia

Gene
TOR1A
Location
Chr 9132,576,344 (GRCh38)
Highest magnitude
7.0Very important
Tested on
23andMe

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. D;DMost notableBadTorsion dystoniaVery important · 7.0
  2. D;IBadtorsion dystoniaVery important · 6.0
  3. I;IGoodcommon/normalTypical · 0.0

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

Other TOR1A SNPs

All TOR1A SNPs

Notes

From SNPedia

Notes

23andMe tests for one mutation that causes torsion dystonia: i4000446, also known as deltaE302 (the risk genotype is a deletion) The rest of the world knows this SNP as rs80358233; for more information, see rs80358233.

D;D

Torsion dystonia

D;I

Torsion dystonia

Source and license

Adapted from i4000446 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.