rs34046593

This is a upstream gene variant variant in the RBPJ gene.

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GWAS Catalog Trait Associations (2)

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

rheumatoid arthritis

Ha E et al. “Large-scale meta-analysis across East Asian and European populations updated genetic architecture and variant-driven biology of rheumatoid arthritis, identifying 11 novel susceptibility loci.” Annals of the Rheumatic Diseases 80(5):558-565 (2021)

Allele A

OR 1.15

p 7.0e-17

N 311,292

Meta-analysisLarge GWAS

multi-ancestry

Hashimoto's thyroiditis

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele A

OR 0.09

p 1.0e-9

N 1,420,658

Large GWAS

European

About RBPJ

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]

rs34046593

GWAS Catalog Trait Associations (2)

rheumatoid arthritis

Hashimoto's thyroiditis

About RBPJ

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