rs28937594

A SNP in the GNE gene on chromosome 9. Its most notable genotype is G;G: Inclusion Body Myopathy, type 2

Gene
GNE
Location
Chr 936,217,399 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadInclusion Body Myopathy, type 2Very important · 6.0
  2. A;GBadCarrier of one inclusion body myopathy mutationImportant · 3.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs28937594 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Notes

rs28937594, also known as c.2228T>C, p.Met743Thr, M743T and most commonly in the literature M712T, is a mutation in the GNE gene on chromosome 9. The very rare rs28937594(C) allele is the most common mutation leading to autosomal recessive inclusion body myopathy 2 (IBM2 or HIBM) in Middle Eastern populations. See also OMIM 603824.0005

G;G

see discussion at rs28937594

A;G

Unaffected in absence of a second GNE gene mutation; see discussion at rs28937594

Source and license

Adapted from rs28937594 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.