rs150289893

This is a intron variant variant in the SLC35B3 gene.

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GWAS Catalog Trait Associations (1)

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

Stevens-Johnson syndrome, toxic epidermal necrolysis, response to methazolamide

Jiang M et al. “Unique motif shared by HLA-B*59:01 and HLA-B*55:02 is associated with methazolamide-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese.” Journal of the European Academy of Dermatology and Venereology : Jeadv 36(6):873-880 (2022)

Allele T

OR 32.64

p 2.0e-8

N 821

Small GWAS

East Asian

About SLC35B3

This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all SLC35B3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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