rs13029918

This is a splice region variant variant in the IL1RL1 gene.

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GWAS Catalog Trait Associations (4)

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

interleukin-1 receptor-like 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 1.30
p 3.0e-257
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 1.280
p 7.0e-76
N 3,301
Large GWAS
European
Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele A
OR 1.38
p 4.0e-13
N 496
Small GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 1.36
p 4.0e-129
N 5,361
Large GWAS
European

interleukin 1 receptor-like 1 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 1.36
p 2.0e-74
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

serum ST2 amount

Ho JE et al. “Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.” The Journal of Clinical Investigation 123(10):4208-18 (2013)
Allele G
OR 0.29
p 2.0e-39
N 2,797
Large GWAS

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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