rs760462

This variant is located in the ITGB2 gene.

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GWAS Catalog Trait Associations (6)

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 C
OR 0.13
p 4.0e-81
N 47,745
Large GWAS
European

insulin-like growth factor 1 receptor level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.07
p 3.0e-32
N 47,745
Large GWAS
European

insulin receptor measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.14
p 9.0e-16
N 10,708
Large GWAS
European

integrin alpha-L measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.06
p 3.0e-13
N 47,745
Large GWAS
European

blood protein amount

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele C
OR 0.44
p 5.0e-20
N 1,559
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Leukocyte adhesion deficiency 1; not specified; not provided

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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