rs7984483

This variant is located in the HMGB1 gene.

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GWAS Catalog Trait Associations (1)

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

biological sex

Pirastu N et al. “Genetic analyses identify widespread sex-differential participation bias.” Nature Genetics 53(5):663-671 (2021)

Allele T

OR 0.02

p 6.0e-9

N 2,462,132

Large GWAS

European

About HMGB1

This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]

View all HMGB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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