rs2306022

This is a protein-altering variant in the ITGA11 gene.

GWAS Catalog Trait Associations (7)

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

level of integrin alpha-11 in blood

Allele T
OR 0.30
p 1.0e-230
N 47,745
Large GWAS
European

brain attribute

van der Meer D et al. The genetic architecture of human cortical folding. Science Advances 7(51):eabj9446 (2021)
Allele T
OR 7.65
p 2.0e-14
N 33,748
Large GWAS
European

Dupuytren Contracture

Allele T
OR 1.27
p 9.0e-11
N 8,557
Large GWAS
multi-ancestry

cerebral cortex area attribute

Allele T
OR
p 9.0e-10
N 35,657
Large GWAS
European
van der Meer D et al. The genetic architecture of human cortical folding. Science Advances 7(51):eabj9446 (2021)
Allele T
OR 5.76
p 8.0e-9
N 33,748
Large GWAS
European

Uterine leiomyoma

Allele T
OR 1.09
p 2.0e-9
N 367,903
Large GWAS
European

facial morphology trait

White JD et al. Insights into the genetic architecture of the human face. Nature Genetics 53(1):45-53 (2021)
Allele T
OR
p 6.0e-9
N 4,680
Large GWAS
European

uterine fibroid

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.11
p 4.0e-13
N 338,926
Large GWAS
multi-ancestry
Allele T
OR 0.10
p 4.0e-11
N 253,542
Meta-analysisLarge GWAS
East Asian, Central Asian, South Asian

About ITGA11

This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]

View all ITGA11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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