rs140221307

This variant is located in the IL17RA gene.

GWAS Catalog Trait Associations (12)

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

monocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.68
p
N 408,112
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 C
OR 0.59
p
N 444,975
Large GWAS
multi-ancestry
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 0.90
p 9.9e-324
N 259,608
Major Consortium StudyLarge GWAS
European
Allele C
OR 0.64
p 4.0e-136
N 170,721
Large GWAS
European

monocyte percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.61
p
N 408,112
Large GWAS
European
Allele C
OR 0.58
p 6.0e-114
N 170,494
Large GWAS
European

interleukin-17 receptor A measurement

Allele C
OR 0.90
p 1.0e-129
N 47,745
Large GWAS
European

granulocyte percentage of myeloid white cells

Allele C
OR 0.48
p 3.0e-78
N 169,545
Large GWAS
European

leukocyte quantity

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 T
OR 0.25
p 1.0e-34
N 381,099
Major Consortium StudyLarge GWAS
European
Allele T
OR 0.15
p 1.0e-25
N 928,679
Large GWAS
multi-ancestry
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-24
N 504,825
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.17
p 2.0e-29
N 408,112
Large GWAS
European

eosinophil count

Allele T
OR 0.14
p 1.0e-25
N 474,237
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 0.10
p 1.0e-19
N 442,919
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.15
p 3.0e-25
N 408,112
Large GWAS
European
Allele T
OR 0.12
p 4.0e-19
N 394,642
Large GWAS
European
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 T
OR 0.13
p 3.0e-11
N 310,849
Major Consortium StudyLarge GWAS
European

lymphocyte percentage of leukocytes

Allele C
OR 0.10
p 1.0e-13
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.10
p 2.0e-12
N 408,112
Large GWAS
European

neutrophil 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 T
OR 0.15
p 2.0e-12
N 275,068
Major Consortium StudyLarge GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.10
p 5.0e-11
N 408,112
Large GWAS
European

lymphocyte 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 T
OR 0.14
p 3.0e-12
N 290,958
Major Consortium StudyLarge GWAS
European

ClinVar annotation

Conflicting Classifications
6 submitters2 publications

Familial Candidiasis, Recessive; Immunodeficiency 51; not provided; IL17RA-related disorder

View on ClinVar →

About IL17RA

Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]

View all IL17RA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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