{{Rsnum
|rsid=2228145
|Gene=IL6R
|Chromosome=1
|position=154454494
|Orientation=plus
|GMAF=0.3191
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=IL6R
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 43.4 | 42.5 | 14.2
| HCB | 36.8 | 47.8 | 15.4
| JPT | 42.9 | 42.9 | 14.3
| YRI | 87.1 | 12.2 | 0.7
| ASW | 70.2 | 29.8 | 0.0
| CHB | 36.8 | 47.8 | 15.4
| CHD | 33.9 | 44.0 | 22.0
| GIH | 48.5 | 48.5 | 3.0
| LWK | 86.4 | 13.6 | 0.0
| MEX | 27.6 | 41.4 | 31.0
| MKK | 79.5 | 17.9 | 2.6
| TSI | 36.3 | 50.0 | 13.7
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2228145
|Name_s=
|Gene_s=IL6R
|Feature=
|Evidence=PubMed ID:18439548
|Annotation=In a GWAS of apparantly healthy women, seven loci were found to be significantly associated with C-Reactive protein levels. Two SNPs were significant in IL6R, and this was the lead SNP.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161614206
}}

{{omim
|id=147880
|rsnum=2228145
|variant=0001
}}

{{PMID Auto
|PMID=22072558
|Title=An intermediate-risk multiple myeloma subgroup is defined by sIL-6r; levels synergistically increase with incidence of SNP rs2228145 and 1q21 amplification
|OA=1
}}

{{PMID Auto
|PMID=22421339
|Title=Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies
|OA=1
}}

{{PMID Auto
|PMID=22554704
|Title=The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma
|OA=1
}}

{{PMID Auto
|PMID=21981268
|Title=Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphisms with cardiovascular disease in patients with rheumatoid arthritis.
}}

{{ClinVar
|rsid=2228145
|Reversed=0
|FwdREF=A
|FwdALT=C,T
|REF=A
|ALT=C,T
|RSPOS=154454494
|CHROM=1
|GMAF=0.3196
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050168080a0515051f130100
|GENEINFO=IL6R:3570
|GENE_NAME=IL6R
|GENE_ID=3570
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.154454494A>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;NSM;REF;INT;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.6809; 0.3191; .
|CLNACC=RCV000015767.1; RCV000029243.1
|CLNDBN=Serum level of interleukin-6 soluble receptor; Serum level of interleukin 6
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN070041:614689; CN130638:614752
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_000565.3:c.1073A>C; NM_181359.2:c.1066+4514A>C; 147880.0001
|COMMON=1
|Disease=Serum level of interleukin-6 soluble receptor; Serum level of interleukin 6
}}

{{PMID|17357077|OA=1
}} Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels.

{{PMID|17671508|OA=1
}} A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.

{{PMID|17898129}} Interleukin-6 receptor gene variations, plasma interleukin-6 levels, and type 2 diabetes in U.S. Women.

{{PMID|17984249}} Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women.

{{PMID|18781131|OA=1
}} Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.

{{PMID|18852197|OA=1
}} Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

{{PMID|18852330|OA=1
}} Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women.

{{PMID|18853133|OA=1
}} Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

{{PMID|19124510|OA=1
}} Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma.

{{PMID|19249341|OA=1
}} Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.

{{PMID|19280716}} The IL6-174G/C polymorphism is associated with celiac disease susceptibility in girls.

{{PMID|19356949|OA=1
}} Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

{{PMID|19503017|OA=1
}} Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthma.

{{PMID|19567438|OA=1
}} Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.

{{PMID|19671870|OA=1
}} Prognostic significance of interleukin-6 single nucleotide polymorphism genotypes in neuroblastoma: rs1800795 (promoter) and rs8192284 (receptor).

{{PMID|19713205}} A gain of function polymorphism in the interleukin 6 receptor influences RA susceptibility.

{{PMID|19926672}} Genotype at the sIL-6R A358C polymorphism does not influence response to anti-TNF therapy in patients with rheumatoid arthritis.

{{PMID|19967057|OA=1
}} Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population.

{{PMID|20031577|OA=1
}} 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.

{{PMID|20031577|OA=1
}} 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.

{{PMID|20031590|OA=1
}} The relation of genetic and environmental factors to systemic inflammatory biomarker concentrations.

{{PMID|20186139}} Interleukin-6 receptor gene polymorphism modulates interleukin-6 levels and the metabolic syndrome: GBCS-CVD.

{{PMID|20197062}} Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han.

{{PMID|20551110}} Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis.

{{PMID|20661738}} Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity.

{{PMID|20811626|OA=1
}} Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

{{PMID|21496483}} Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway.

{{PMID|22421340|OA=1
}} The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

{{GET Evidence
|gene=IL6R
|aa_change=Asp358Ala
|aa_change_short=D358A
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228145
|overall_frequency_n=3401
|overall_frequency_d=10758
|overall_frequency=0.316137
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=1
|n_articles_annotated=1
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.911
|nblosum100=5
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=23111417
|Title=Interleukin-6 receptor pathways in abdominal aortic aneurysm
|OA=1
}}

{{PMID Auto
|PMID=23372742
|Title=Interleukin-6 Receptor Polymorphism Is Prevalent in HIV-negative Castleman Disease and Is Associated with Increased Soluble Interleukin-6 Receptor Levels
|OA=1
}}

{{PMID Auto
|PMID=23594084
|Title=The interleukin 6 receptor alpha gene polymorphisms are associated with clinical manifestations of systemic lupus erythematosus in Koreans
}}

{{PMID Auto
|PMID=23945879
|Title=A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk
}}

{{PMID Auto
|PMID=23582566
|Title=A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis
}}

{{PMID Auto
|PMID=24285489
|Title=Investigation of an interleukin-6 receptor gene polymorphism (rs2228145) as a predictor of cardiovascular mortality in inflammatory polyarthritis: results from the Norfolk Arthritis Register
}}

{{PMID Auto
|PMID=22742541
|Title=No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
}}

{{PMID Auto
|PMID=23073775
|Title=Association of two variants in the interleukin-6 receptor gene and premature coronary heart disease in a Chinese Han population.
}}

{{PMID Auto
|PMID=23094986
|Title=Interleukin-6 receptor gene 48892 A/C polymorphism is associated with metabolic syndrome in female Taiwanese adolescents.
|OA=1
}}

{{PMID Auto
|PMID=23505291
|Title=Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.
}}

{{PMID Auto
|PMID=23533647
|Title=Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma.
|OA=1
}}

{{PMID Auto
|PMID=24878322
|Title=The Interleukin-6 Receptor Asp358Ala Single Nucleotide Polymorphism rs2228145 Confers Increased Proteolytic Conversion Rates by ADAM Proteases
}}

{{PMID Auto GWAS
  |PMID=24390342
  |Trait=Rheumatoid arthritis
  |Title=Genetics of rheumatoid arthritis contributes to biology and drug discovery.
  |RiskAllele=A
  |Pval=4E-9
  |OR=1.08
  |ORtxt=[1.05-1.10]
  }}
{{on chip | 23andMe v3}}