rs28937869(C;T)

Carrier for Ehlers-Danlos syndrome

Magnitude
2.5Worth knowing
Repute
Bad
On SNPedia
rs28937869(C;T)
Gene
B4GALT7

Other genotypes of rs28937869

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. T;TMost notableBadEhlers-Danlos syndromeVery important · 4.0

All about rs28937869

Notes

From SNPedia

This mutation was found via a family where the affected were (T;T) homozygotes. http://omim.org/entry/604327#0003 In this form fibroblasts produced heparan sulfate with a reduced level of sulfation compared with normal control fibroblasts. Altered heparan sulfate resulted in several changes of the cellular phenotype, including delayed wound repair, altered fibronectin adhesion, actin stress fiber and filopodia formation, and collagen gel contraction. https://www.23andme.com/you/community/thread/4143/ Ehlers-Danlos syndrome

Source and license

Adapted from rs28937869(C;T) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.