rs2571375

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

Key Literature Trait Associations

Carbamazepine Hypersensitivity

This is an alternative tag SNP for HLA-A*31:01. Together with rs1061235, it improves prediction accuracy of carbamazepine hypersensitivity risk across diverse populations. Using multiple tag SNPs compensates for incomplete linkage disequilibrium between any single tag and the HLA allele in different ethnic backgrounds.

McCormack M et al. “HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.” The New England Journal of Medicine 364(12):1134-1143 (2011)

Allele A

OR —

p 1.0e-8

Large GWAS

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GWAS Catalog Trait Associations (2)

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

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