rs104894371

A SNP in the PUS1 gene on chromosome 12. Its most notable genotype is C;T: Carrier of a mitochondrial myopathy and sideroblastic anemia mutation

Gene
PUS1
Location
Chr 12131,932,301 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadCarrier of a mitochondrial myopathy and sideroblastic anemia 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.

Notes

From SNPedia

Notes

aka c.346C>T (p.Arg116Trp or R116W)

Source and license

Adapted from rs104894371 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.