rs12479210

This variant is located in the IL1RL1 gene.

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GWAS Catalog Trait Associations (3)

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

eosinophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 2.0e-100
N 485,659
Major Consortium StudyLarge GWAS
multi-ancestry

asthma

Shrine N et al. “Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.” The Lancet. Respiratory Medicine 7(1):20-34 (2019)
Allele T
OR 1.19
p 2.0e-29
N 30,810
Large GWAS
European

Nasal Cavity Polyp

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 0.15
p 2.0e-12
N 602,065
Large GWAS
multi-ancestry

About IL1RL1

The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

View all IL1RL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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