rs12133641

This is a intron variant variant in the IL6R gene.

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GWAS Catalog Trait Associations (13)

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

C-reactive protein measurement

Oh K et al. “A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its genetic relationship with cholesterol metabolism.” Scientific Reports 15(1):189 (2025)
Allele G
OR 0.08
p 2.0e-73
N 71,019
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.04
p 4.0e-17
N 83,025
Large GWAS
East Asian
Choi CK et al. “No association between genetically predicted C-reactive protein levels and colorectal cancer survival in Korean: two-sample Mendelian randomization analysis.” Epidemiology and Health 45:e2023039 (2023)
Allele G
OR 0.12
p 4.0e-47
N 47,258
Large GWAS
East Asian
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele G
OR 0.09
p 1.0e-19
N 38,000
Large GWAS
South Asian

atopic eczema

Budu-Aggrey A et al. “European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.” Nature Communications 14(1):6172 (2023)
Allele G
OR 1.04
p 3.0e-45
N 864,982
Meta-analysisLarge GWAS
European

glycoprotein measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 1.0e-24
N 450,015
Large GWAS
multi-ancestry

total lipids in small LDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 5.0e-17
N 450,015
Large GWAS
multi-ancestry

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR —
p 1.0e-16
N 563,352
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in small LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 3.0e-15
N 450,015
Large GWAS
multi-ancestry

Abdominal Aortic Aneurysm

Jones GT et al. “Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.” Circulation Research 120(2):341-353 (2017)
Allele A
OR 1.14
p 5.0e-13
N 104,830
Meta-analysisLarge GWAS
European
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.10
p 6.0e-9
N 1,455,875
Meta-analysisLarge GWAS
multi-ancestry

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.04
p 3.0e-11
N 296,525
Large GWAS

platelet volume

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 0.02
p 3.0e-11
N 476,837
Major Consortium StudyLarge GWAS
multi-ancestry

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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