rs13019803

This is a intron variant variant in the IL1R1 gene.

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GWAS Catalog Trait Associations (2)

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

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 T

OR 0.14

p 6.0e-20

N 2,797

Large GWAS

interleukin 1 receptor-like 2 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 T

OR 0.28

p 7.0e-14

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

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ClinVar annotation

Association

1 submitter1 publication

Ascending aortic dissection

View on ClinVar →

About IL1R1

This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]