rs28928909

A SNP in the MYF6 gene on chromosome 12. Its most notable genotype is G;T: Possible tendency for muscle cramps?

Gene
MYF6
Location
Chr 1280,708,053 (GRCh38)
Highest magnitude
2.9Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TMost notableBadPossible tendency for muscle cramps?Worth knowing · 2.9

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

Notes

From SNPedia

Show notes, about 170 words

rs28928909, also known as c.334G>T, p.Ala112Ser and A112S, represents a rare variant in the MYF6 gene, a member of a gene family of muscle determination factors in humans. One report published in 2000, describing a mild case of centronuclear myopathy in a 9 year old boy (based on complaints of muscle cramps and weakness in his lower limbs during vigorous exercise), concludes that the likely causative mutation, acting in an autosomal dominant manner, was rs28928909(T). This variant is quite rare (with only about 100 carriers out of 60,000 sequenced according to ExAC), but the association with any form of myopathy has not been replicated to our knowledge. See the Talk page for rs28928909(G;T) for report(s) from Promethease users.

G;T

See discussion at rs28928909; if you are reading this directly from within your Promethease report (and not just while browsing SNPedia), feel free to provide feedback to us to let us know if you do - or don't - have a tendency towards muscle cramping during vigorous exercise.

Source and license

Adapted from rs28928909 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.