rs4251697

This variant is located in the CDKN1B gene.

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GWAS Catalog Trait Associations (3)

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

systemic lupus erythematosus

Yin X et al. “Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.” Annals of the Rheumatic Diseases 80(5):632-640 (2021)
Allele A
OR 0.64
p 1.0e-43
N 208,370
Meta-analysisLarge GWAS
East Asian

lymphocyte count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.08
p 2.0e-18
N 95,717
Large GWAS
East Asian
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.09
p 4.0e-15
N 89,266
Large GWAS
East Asian

mosaic loss of chromosome Y measurement

Terao C et al. “GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.” Nature Communications 10(1):4719 (2019)
Allele G
OR —
β 0.059
p 2.0e-10
N 95,380
Large GWAS
East Asian
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ClinVar annotation

Benign★☆☆☆
1 submitter

Multiple endocrine neoplasia type 4

View on ClinVar →

About CDKN1B

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

View all CDKN1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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