rs315952
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs315952(C;C) |
| Make rs315952(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 113132727 |
| Gene | IL1RN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs315952 |
| dbSNP (classic) | rs315952 |
| ClinGen | rs315952 |
| ebi | rs315952 |
| HLI | rs315952 |
| Exac | rs315952 |
| Gnomad | rs315952 |
| Varsome | rs315952 |
| LitVar | rs315952 |
| Map | rs315952 |
| PheGenI | rs315952 |
| Biobank | rs315952 |
| 1000 genomes | rs315952 |
| hgdp | rs315952 |
| ensembl | rs315952 |
| geneview | rs315952 |
| scholar | rs315952 |
| rs315952 | |
| pharmgkb | rs315952 |
| gwascentral | rs315952 |
| openSNP | rs315952 |
| 23andMe | rs315952 |
| SNPshot | rs315952 |
| SNPdbe | rs315952 |
| MSV3d | rs315952 |
| GWAS Ctlg | rs315952 |
| GMAF | 0.3907 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20178882] Genetic variation of the interleukin-1 family and nongenetic factors determining the interleukin-1 receptor antagonist phenotypes
[PMID 19934104
] Radiographic severity of knee osteoarthritis is conditional on Interleukin 1 Receptor Antagonist gene variations
[PMID 21672595] Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis
[PMID 22285486] Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 17176440] The different expression patterns of interleukin-1 receptor antagonist in systemic lupus erythematosus.
[PMID 18063673] Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis.
[PMID 19043479] Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.
[PMID 19230157] Immunogenetics of seasonal influenza vaccine response.
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 19729864] Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study.
[PMID 20213597] Genetic associations of IL1RN polymorphisms with metabolic syndrome in a Korean population.
[PMID 20353565] Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.
[PMID 20463618] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
[PMID 20975573] Interleukin 1 beta (IL-1B) and IL-1 antagonist receptor (IL-1RN) gene polymorphisms are associated with the genetic susceptibility and steroid dependence in patients with ulcerative colitis.
[PMID 21146623] Large-scale meta-analysis of interleukin-1 beta and interleukin-1 receptor antagonist polymorphisms on risk of radiographic hip and knee osteoarthritis and severity of knee osteoarthritis.
[PMID 21279638] Coding single-nucleotide polymorphisms of interleukin-1 gene cluster are not associated with Kawasaki disease in the Korean population.
[PMID 21621860] Association of IL1A, IL1B, ILRN, IL6, IL10 and TNF-alpha polymorphisms with risk and clinical course of multiple sclerosis in a Polish population.
[PMID 23449693] IL1RN Coding Variant Is Associated with Lower Risk of Acute Respiratory Distress Syndrome and Increased Plasma IL1RA
[PMID 23765978] Association between IL-1RN gene polymorphisms and susceptibility to ankylosing spondylitis: a large Human Genome Epidemiology review and meta-analysis
[PMID 23602982] IL-1 receptor antagonist gene as a predictive biomarker of progression of knee osteoarthritis in a population cohort
[PMID 23722873] Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosus.
[PMID 24918527] Genetic variations in IL1A and IL1RN are associated with the risk of preeclampsia in Chinese Han population
| ClinVar | |
|---|---|
| Risk | rs315952(A;A) rs315952(C;C) |
| Alt | rs315952(A;A) rs315952(C;C) |
| Reference | Rs315952(T;T) |
| Significance | Non-pathogenic |
| Disease | Interleukin 1 receptor antagonist deficiency not specified |
| Variation | info |
| Gene | IL1RN |
| CLNDBN | Interleukin 1 receptor antagonist deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.113890304T>C |
| CLNSRC | |
| CLNACC | RCV000330957.1, RCV000454505.1, |
