rs2228145

A SNP in the IL6R gene on chromosome 1. Its most notable genotype is A;A: common in clinvar

Gene
IL6R
Location
Chr 1154,454,494 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
32%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableGoodcommon in clinvarTypical · 0.054% of people

On SNPedia: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 54%
  • European ancestry (Utah)A;A 43%
  • Han Chinese (Beijing)A;A 37%
  • Japanese (Tokyo)A;A 43%
  • Yoruba (Nigeria)A;A 87%
  • African ancestry (Southwest US)A;A 70%
  • Chinese (Denver)A;A 34%
  • Gujarati IndianA;A 49%
  • Luhya (Kenya)A;A 86%
  • Mexican ancestry (Los Angeles)A;A 28%
  • Maasai (Kenya)A;A 80%
  • TuscanA;A 36%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 600 words

rs2228145, also known as p.Asp358Ala, represents a variant in the the interleukin 6 receptor (IL6R) gene, located on chromosome 1. Patients with amyotrophic lateral sclerosis (ALS) who carry rs2228145(C) alleles appear likely to have more severe disease symptoms and faster progression than ALS patients who are rs2228145(A;A), according to a 2019 study. Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects. Interleukin-6 receptor gene variations, plasma interleukin-6 levels, and type 2 diabetes in U.S. Women. Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women. Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma. Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women. Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma. Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults. The IL6-174G/C polymorphism is associated with celiac disease susceptibility in girls. Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies. Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthma. Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. Prognostic significance of interleukin-6 single nucleotide polymorphism genotypes in neuroblastoma: rs1800795 (promoter) and rs8192284 (receptor). A gain of function polymorphism in the interleukin 6 receptor influences RA susceptibility. Genotype at the sIL-6R A358C polymorphism does not influence response to anti-TNF therapy in patients with rheumatoid arthritis. Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. The relation of genetic and environmental factors to systemic inflammatory biomarker concentrations. Interleukin-6 receptor gene polymorphism modulates interleukin-6 levels and the metabolic syndrome: GBCS-CVD. Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han. Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis. Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity. Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway. The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

Source and license

Adapted from rs2228145 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.