rs181206

This is a protein-altering variant in the IL27 gene.

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GWAS Catalog Trait Associations (6)

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

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 2.0e-20
N 408,112
Large GWAS
European

monocyte 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 A
OR 0.03
p 4.0e-16
N 429,585
Major Consortium StudyLarge GWAS
multi-ancestry

erythrocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 2.0e-15
N 394,642
Large GWAS
European

Red cell distribution width

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 3.0e-12
N 394,642
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.02
p 9.0e-11
N 455,180
Large GWAS
Hispanic or Latin American
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Research that mentions this SNP (1)

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Associations between polymorphisms in IL-12A, IL-12B, IL-12Rβ1, IL-27 gene and serum levels of IL-12p40, IL-27p28 with esophageal cancer
AssociationN=858Yi-Peng Tao et al.(2012)· Journal of Cancer Research and Clinical Oncology

Case-control study investigating IL-12 family and IL-12Rb1 gene polymorphisms in esophageal cancer. rs3212227 CC/AC genotype significantly increased cancer risk (OR=1.515, P=0.006), and rs568408 AG/AA and IL-12Rb1 378 GG/GC also increased risk. These variants were associated with decreased serum IL-12p40 levels, suggesting impaired immune response contributes to esophageal cancer susceptibility.

Traits studied:Esophageal cancer
PubMedDOIMetascience Observatory

About IL27

The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]

View all IL27 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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