rs2219837
This is a intron variant variant in the CHST3 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Back pain
Freidin MB et al. “Insight into the genetic architecture of back pain and its risk factors from a study of 509,000 individuals.” Pain 160(6):1361-1373 (2019)
Allele T
OR 0.03
p 3.0e-12
N 453,862
Large GWAS
European
About CHST3
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
View all CHST3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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