rs1871452

This variant is located in the CHST3 gene.

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Back pain

Bjornsdottir G et al. “Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.” Nature Communications 13(1):634 (2022)

Allele T

OR 0.92

p 2.0e-39

N 981,812

Large GWAS

European

vertebral column disorder

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele T

OR 0.04

p 9.0e-14

N 578,958

Major Consortium StudyLarge GWAS

multi-ancestry

▶

ClinVar annotation

Benign★★★☆

2 submitters1 publication

Skeletal dysplasia; Larsen syndrome; Spondyloepiphyseal dysplasia with congenital joint dislocations; Spondyloepiphyseal dysplasia congenita; not provided

View on ClinVar →

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]