rs5030672

This is a variant in the ITGB2 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (2)

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

level of integrin beta-2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.27

p 3.0e-23

N 47,745

Large GWAS

European

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.07

p 7.0e-10

N 408,112

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

10 submitters4 publications

ITGB2-related disorder; Leukocyte adhesion deficiency 1 (LAD1); not specified

View on ClinVar →

About ITGB2

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]