rs8192284
| Merged into | rs2228145 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | reduced risk of multiple myeloma | |
| (A;C) | 1.7x increased melanoma risk | |
| (C;C) | 2.5x increased risk of multiple myeloma versus AA genotype |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 154454494 |
| Gene | IL6R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8192284 |
| dbSNP (classic) | rs8192284 |
| ClinGen | rs8192284 |
| ebi | rs8192284 |
| HLI | rs8192284 |
| Exac | rs8192284 |
| Gnomad | rs8192284 |
| Varsome | rs8192284 |
| LitVar | rs8192284 |
| Map | rs8192284 |
| PheGenI | rs8192284 |
| Biobank | rs8192284 |
| 1000 genomes | rs8192284 |
| hgdp | rs8192284 |
| ensembl | rs8192284 |
| geneview | rs8192284 |
| scholar | rs8192284 |
| rs8192284 | |
| pharmgkb | rs8192284 |
| gwascentral | rs8192284 |
| openSNP | rs8192284 |
| 23andMe | rs8192284 |
| SNPshot | rs8192284 |
| SNPdbe | rs8192284 |
| MSV3d | rs8192284 |
| GWAS Ctlg | rs8192284 |
| Status | Merged into rs2228145 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
A study of 219 female melanoma patients and an equal number of controls concluded that 4 linked SNPs within the IL6R gene were associated with increased melanoma risk, but only when heterozygous. The odds ratio associated with the minor allele of this SNP, rs8192284 (also known as Asp358Ala), was 1.68 (CI: 1.04-2.73). The 4 linked SNPs from identified in this study are: rs6684439, rs4845618, rs4845622, and rs8192284.[PMID 18781131
]
linked to diabetes by [PMID 17898129]
[PMID 19124510] multiple myeloma
- rs1801278 [C/T versus C/C genotypes; OR, 4.3; 95% confidence interval (CI), 1.5-12.1]
- rs6684439 (T/T versus C/C; OR, 2.9; 95% CI, 1.2-7.0)
- rs7529229 (C/C versus T/T; OR, 2.5; 95% CI, 1.1-6.0)
- rs8192284 (C/C versus A/A; OR, 2.5, 95% CI, 1.1-6.0)
| GWAS | |
|---|---|
| SNP | rs8192284 |
| PubMedID | [PMID 18439548]
|
| Condition | C-reactive protein |
| Gene | IL6R |
| Risk Allele | |
| pValue | 2.00E-008 |
| OR | 0.1 |
| 95% CI | NR) mg/dl decreas |
[PMID 19280716] The IL6-174G/C polymorphism is associated with celiac disease susceptibility in girls.
[PMID 19671870] 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 20031590] The Relation of Genetic and Environmental Factors to Systemic Inflammatory Biomarker Concentrations
| GWAS snp | |
|---|---|
| PMID | [PMID 20031577]
|
| Trait | Fibrinogen |
| Title | 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 |
| Risk Allele | C |
| P-val | 2E-11 |
| Odds Ratio | 5.30 [NR] mg/dl decrease |
[PMID 20186139] Interleukin-6 Receptor Gene Polymorphism Modulates Interleukin-6 Levels and the Metabolic Syndrome: GBCS-CVD
[PMID 20551110] Influence of IL6R rs8192284 Polymorphism Status in Disease Activity in Rheumatoid Arthritis
[PMID 20197062] Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han
[PMID 22421340] The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis
[PMID 22677780] Interleukin-6 -634G>C Genetic Polymorphism Is Associated with Prognosis following Surgery for Advanced Thoracic Esophageal Squamous Cell Carcinoma
[PMID 22742541] No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis
[PMID 24059848] Interleukin-6 polymorphisms and hematologic malignancy: a re-appraisal of evidence from genetic association studies
[PMID 31836512] Polymorphism of IL6 receptor gene is associated with ischaemic stroke in patients with metabolic syndrome.
