rs12470864

This is a upstream gene variant variant 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.

asthma

Ferreira MAR et al. “Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.” American Journal of Human Genetics 104(4):665-684 (2019)
Allele A
OR 1.12
p 2.0e-56
N 341,215
Large GWAS
European
Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)
Allele A
OR 1.09
p 8.0e-43
N 771,388
Large GWAS
European
Jia G et al. “Discerning asthma endotypes through comorbidity mapping.” Nature Communications 13(1):6712 (2022)
Allele A
OR 1.10
p 2.0e-8
N 305,098
Large GWAS
multi-ancestry

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele A
OR 1.06
p 4.0e-26
N 360,838
Large GWAS
European

FEV/FVC ratio

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 4.0e-19
N 394,642
Large GWAS
European
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele A
OR 7.67
p 2.0e-14
N 588,452
Large GWAS
multi-ancestry
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.02
p 1.0e-16
N 321,047
Large GWAS
European

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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