rs551143

This is a intron variant variant in the RREB1 gene.

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GWAS Catalog Trait Associations (4)

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

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 5.0e-27
N 381,267
Major Consortium StudyLarge GWAS
European

monocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 2.0e-17
N 374,014
Major Consortium StudyLarge GWAS
multi-ancestry

neutrophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.02
p 1.0e-12
N 389,163
Major Consortium StudyLarge GWAS
multi-ancestry

Uveal Melanoma

Mies G et al. “Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity.” Hgg Advances 6(3):100465 (2025)
Allele A
OR —
p 2.0e-10
N 354,387
Meta-analysisLarge GWAS
European

About RREB1

The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

View all RREB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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