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rs28937869(C;T)

From SNPedia

carrier for Ehlers-Danlos syndrome
Is agenotype
ofrs28937869
GeneB4GALT7
Chromosome5
Position177,608,994
mentionedby
Magnitude2.5
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2.5 carrier for Ehlers-Danlos syndrome
(T;T) 4 Ehlers-Danlos syndrome

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