rs6928038

This is a intergenic variant in the HLA-B gene.

Key Literature Trait Associations

Allopurinol Hypersensitivity

This variant tags HLA-B*58:01, which is associated with severe allopurinol-induced Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) — life-threatening immune-mediated skin reactions. Risk is highest in Southeast Asian, Korean, and African American populations where HLA-B*58:01 prevalence is 6-8%. The American College of Rheumatology recommends HLA-B*58:01 testing before starting allopurinol for gout, especially in high-risk populations.

Saito Y et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update.” Clinical Pharmacology and Therapeutics 99(1):36-37 (2016)

Allele A

OR —

p 1.0e-15

Large GWAS

Gene information from NCBI Gene. Variant classifications from ClinVar.

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