rs72547571

A SNP in the ALDH3A2 gene on chromosome 17. Its most notable genotype is C;T: Carrier of a Sjogren-Larsson syndrome mutation

Gene
ALDH3A2
Location
Chr 1719,663,335 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadCarrier of a Sjogren-Larsson syndrome mutationImportant · 3.0

On SNPedia: (C;C), (C;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

rs72547571, also known as c.943C>T, P315S or p.Pro315Ser, is a mutation in the fatty aldehyde dehydrogenase ALDH3A2 gene. Inherited as an autosomal recessive, two copies of the risk allele rs72547571(T), or one copy plus another defective ALDH3A2 allele, leads to Sjogren-Larsson syndrome.

C;T

Unaffected in absence of a second ALDH3A2 gene mutation

Source and license

Adapted from rs72547571 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.