rs29001584

A SNP in the SETX gene on chromosome 9. Its most notable genotype is A;G: ALS type 4; carrier for SCAN type 1 (possibly)

Gene
SETX
Location
Chr 9132,330,432 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TNot ratedNo summary available.Typical · 0.0
  2. A;GMost notableBadALS type 4; carrier for SCAN type 1 (possibly)Very important · 6.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs29001584 on the minus strand: (A;A), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

aka c.1166T>C (p.Leu389Ser or L389S) Reported in ClinVar as pathogenic for both autosomal dominant amyotrophic lateral sclerosis (ALS) type 4, and, autosomal recessive spinocerebellar ataxia type 1. ALS4 is reported to be a subtype of juvenile ALS, and a news item about a 2019 conference presentation about patients with this mutation is here.

A;G

see text and links via main rs-page

Source and license

Adapted from rs29001584 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.