rs11643425
This is a intron variant variant in the XYLT1 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.
hidradenitis suppurativa
Peacker BL et al. “Multiomics analyses prioritize disease genes and pathways in hidradenitis suppurativa.” The Journal of Investigative Dermatology (2026)
Allele T
OR 2.59
p 5.0e-8
N 1,439,544
Large GWAS
multi-ancestry
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]
View all XYLT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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