rs531438766

This variant is located in the RELB gene.

▶

GWAS Catalog Trait Associations (1)

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

Alzheimer disease, family history of Alzheimer’s disease

Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)

Allele A

OR —

p 1.0e-8

N 404,467

Large GWAS

multi-ancestry

About RELB

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and protein kinase binding activity. Involved in lymphocyte differentiation and negative regulation of interferon-beta production. Located in several cellular components, including centrosome; chromatin; and nucleoplasm. Part of nucleus and transcription repressor complex. Implicated in breast cancer and immunodeficiency 53. Biomarker of breast cancer and transitional cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

View all RELB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…