rs6694817

This is a intron variant variant in the IL6R gene.

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GWAS Catalog Trait Associations (2)

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

COVID-19, coronary artery disease

Guo H et al. “Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis.” Frontiers in Microbiology 13:993933 (2022)

Allele T

OR 0.95

p 2.0e-10

N 191,884

Meta-analysisLarge GWAS

multi-ancestry

coronary artery disease

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele T

OR 0.02

p 3.0e-10

N 640,258

Large GWAS

European, East Asian

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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]