rs730775

This variant is located in the NFKBIE gene.

GWAS Catalog Trait Associations (2)

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

monocyte count

Allele G
OR 0.02
p 5.0e-25
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 2.0e-24
N 408,112
Large GWAS
European
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 G
OR 0.03
p 7.0e-21
N 259,625
Major Consortium StudyLarge GWAS
European
Allele G
OR 0.03
p 6.0e-14
N 170,721
Large GWAS
European

monocyte percentage of leukocytes

Allele G
OR 0.02
p 2.0e-19
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 1.0e-18
N 408,112
Large GWAS
European
Allele G
OR 0.02
p 2.0e-10
N 170,494
Large GWAS
European

About NFKBIE

The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]

View all NFKBIE 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

Sign in to join the discussion.

Loading comments…