rs6504649

This is a variant in the XYLT2 gene that changes a threonine to an arginine.

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GWAS Catalog Trait Associations (2)

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

level of podocalyxin-like protein 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.09

p 1.0e-66

N 47,745

Large GWAS

European

level of neurocan core protein in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.05

p 5.0e-27

N 47,745

Large GWAS

European

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ClinVar annotation

Risk Factor★★★☆

1 submitter3 publications

Osteogenesis imperfecta (OI); PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF; Spondylo-ocular syndrome

View on ClinVar →

About XYLT2

The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]