rs1551943

This is a upstream gene variant variant in the ITGA1 gene.

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GWAS Catalog Trait Associations (2)

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

chronic obstructive pulmonary disease

Sakornsakolpat P et al. “Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.” Nature Genetics 51(3):494-505 (2019)
Allele A
OR 1.08
p 6.0e-10
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR

About ITGA1

This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]

View all ITGA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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