rs2230531

This variant is located in the ITGB2 gene.

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GWAS Catalog Trait Associations (1)

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

level of integrin alpha-M 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 T
OR 0.38
p 4.0e-34
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
8 submitters2 publications

not provided; Leukocyte adhesion deficiency 1; 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]

View all ITGB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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