rs61812598

This is a intron variant variant in the IL6R gene.

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GWAS Catalog Trait Associations (9)

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

C-reactive protein measurement

Han X et al. “Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration.” European Journal of Epidemiology 35(2):139-146 (2020)
Allele G
OR 0.09
p —
N 418,642
Large GWAS
European
Ligthart S et al. “Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.” American Journal of Human Genetics 103(5):691-706 (2018)
Allele G
OR 0.09
p 1.0e-100
N 148,164
Large GWAS
European

interleukin-6 measurement

Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)
Allele A
OR 0.11
p 1.0e-49
N 18,844
Major Consortium StudyLarge GWAS
multi-ancestry

level of engulfment and cell motility protein 2 in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele A
OR 1.10
p 4.0e-42
N 200
Small GWAS
European

level of uncharacterized protein FAM241A in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele A
OR 1.11
p 1.0e-41
N 198
Small GWAS
European

circulating fibrinogen levels

de Vries PS et al. “A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.” Human Molecular Genetics 25(2):358-70 (2016)
Allele A
OR —
β 0.011
p 3.0e-36
N 120,246
Meta-analysisLarge GWAS
European

monocyte percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 8.0e-27
N 394,642
Large GWAS
European

Eczematoid dermatitis

Grosche S et al. “Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.” Nature Communications 12(1):6618 (2021)
Allele A
OR 1.10
p 4.0e-17
N 400,449
Large GWAS
European

coronary atherosclerosis

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 G
OR 0.04
p 5.0e-11
N 602,192
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

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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