rs9276935

This variant is located in the BRD2 gene.

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GWAS Catalog Trait Associations (1)

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

sarcoidosis

Liao SY et al. “Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility.” Human Molecular Genetics 32(16):2669-2678 (2023)
Allele C
OR 0.53
p 3.0e-8
N 2,599
Large GWAS
European

About BRD2

This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]

View all BRD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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