rs140291094

A SNP in the STAC3 gene on chromosome 12. Its most notable genotype is G;G: Predicted to have Native American myopathy

Gene
STAC3
Location
Chr 1257,244,322 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;GBadunaffected carrier of Native American myopathy alleleImportant · 3.0
  3. G;GMost notableBadPredicted to have Native American myopathyVery important · 5.0

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

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs140291094, also known as Trp284 Ser or W284S, is a SNP in the SH3 and cysteine rich domain 3 STAC3 gene on chromosome 12. In 2013, rs140291094 was identified as a cause of Native American myopathy, a recessive condition. The common allele is rs140291094(C); the rare mutant is rs140291094(G).

Source and license

Adapted from rs140291094 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.