rs28937869

A SNP in the B4GALT7 gene on chromosome 5. Its most notable genotype is T;T: Ehlers-Danlos syndrome

Gene
B4GALT7
Location
Chr 5177,608,994 (GRCh38)
Highest magnitude
4.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TBadcarrier for Ehlers-Danlos syndromeWorth knowing · 2.5
  3. T;TMost notableBadEhlers-Danlos syndromeVery important · 4.0

On SNPedia: (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

Notes

From SNPedia

Notes

C;T

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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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