rs61758388

This is a variant in the XYLT1 gene that changes a alanine to an serine.

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GWAS Catalog Trait Associations (1)

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

biglycan measurement

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

Allele A

OR 0.32

p 1.0e-94

N 47,745

Large GWAS

European

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ClinVar annotation

Risk Factor★★★☆

7 submitters3 publications

Autosomal recessive inherited pseudoxanthoma elasticum (PXE); Desbuquois dysplasia 1 (DBQD1); Desbuquois dysplasia 2 (DBQD2); PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF

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About XYLT1

This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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