rs72823641

This is a intron variant variant in the IL1RL1 gene.

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GWAS Catalog Trait Associations (7)

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

asthma, Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.16
p 1.0e-78
N 346,545
Major Consortium StudyLarge GWAS
European

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 T
OR 1.20
p 5.0e-76
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 T
OR 1.15
p 4.0e-51
N 771,388
Large GWAS
European
Valette K et al. “Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.” Communications Biology 4(1):700 (2021)
Allele T
OR 0.15
p 3.0e-53
N 408,422
Major Consortium StudyLarge GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.16
p 1.0e-61
N 394,626
Large GWAS
European
Zhu Z et al. “Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.” The European Respiratory Journal 54(6) (2019)
Allele T
OR 1.16
p 2.0e-60
N 394,283
Large GWAS
multi-ancestry
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR —
p 4.0e-61
N 281,699
Major Consortium StudyLarge GWAS
European

Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.16
p 1.0e-63
N 323,807
Major Consortium StudyLarge GWAS
European

childhood onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele T
OR 1.42
p 3.0e-46
N 327,670
Large GWAS
European
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 0.16
p 1.0e-33
N 601,193
Large GWAS
multi-ancestry

asthma, age at onset

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 T
OR 1.19
p 9.0e-30
N 28,835
Large GWAS
European

allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.19
p 2.0e-25
N 258,688
Major Consortium StudyLarge GWAS
European

adult onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele T
OR 1.11
p 4.0e-12
N 339,801
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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