rs11265613

This variant is located in the IL6R gene.

GWAS Catalog Trait Associations (5)

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

monocyte count

Allele C
OR
p 1.0e-23
N 639,696
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 C
OR 0.02
p 1.0e-15
N 408,112
Large GWAS
European
Allele C
OR 0.02
p 9.0e-23
N 394,642
Large GWAS
European

erythrocyte volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 8.0e-17
N 408,112
Large GWAS
European

lymphocyte:monocyte ratio

Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR
p 3.0e-16
N 234,184
Large GWAS
European

mean corpuscular hemoglobin

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 5.0e-15
N 408,112
Large GWAS
European

large artery stroke

Allele T
OR 1.05
p 1.0e-8
N 1,241,207
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter1 publication

not specified

View on ClinVar →

About IL6R

This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]

View all IL6R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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