rs11594656
| Orientation | plus |
| Stabilized | plus |
| Make rs11594656(A;A) |
| Make rs11594656(A;T) |
| Make rs11594656(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 6080046 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11594656 |
| dbSNP (classic) | rs11594656 |
| ClinGen | rs11594656 |
| ebi | rs11594656 |
| HLI | rs11594656 |
| Exac | rs11594656 |
| Gnomad | rs11594656 |
| Varsome | rs11594656 |
| LitVar | rs11594656 |
| Map | rs11594656 |
| PheGenI | rs11594656 |
| Biobank | rs11594656 |
| 1000 genomes | rs11594656 |
| hgdp | rs11594656 |
| ensembl | rs11594656 |
| geneview | rs11594656 |
| scholar | rs11594656 |
| rs11594656 | |
| pharmgkb | rs11594656 |
| gwascentral | rs11594656 |
| openSNP | rs11594656 |
| 23andMe | rs11594656 |
| SNPshot | rs11594656 |
| SNPdbe | rs11594656 |
| MSV3d | rs11594656 |
| GWAS Ctlg | rs11594656 |
| GMAF | 0.1602 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| Rs11594656 | |
|---|---|
| PubMed | [PMID 17676041] |
| Affy Probeset | SNP_A-8400635 |
| Affy Orientation | reverse |
| On GW 5.0 | 0 |
| Alleles A/B | A/T |
| Ancestral | T |
| Population | CEU |
| Allele | T |
| Case Freq. | 0.78 |
| Control Freq. | 0.75 |
| Odds Ratio Het | 1.19 |
| Odds Ratio Hom | 1.38 |
| Odds Ratio All | 1.22 |
| Disease | Type I Diabetes (T1D) |
rs11594656 increases susceptibility to Type I Diabetes 1.19 times for heterozygotes (AT) and 1.38 times for homozygotes (TT) [PMID 17676041]
[PMID 19265545
] Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis.
[PMID 19956099] The type I diabetes association of the IL2RA locus
[PMID 20033399] Single-nucleotide polymorphisms in the IL2RA gene are associated with age at diagnosis in late-onset Finnish type 1 diabetes subjects
[PMID 22012429] The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis
[PMID 17554260] Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18776148] Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19106270] Genetic association between the interleukin-2 receptor-alpha gene and mode of onset of type 1 diabetes in the Japanese population.
[PMID 19119414] IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.
[PMID 19125193] IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).
[PMID 19701192] Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956106] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
[PMID 20179739] Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.
[PMID 20236493] The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis.
[PMID 21815908] A variant of the Il2ra / Cd25 gene predisposing to graves' disease is associated with increased levels of soluble interleukin-2 receptor.
[PMID 22211793] Polymorphic variants of the IL2RA gene and susceptibility to type 1 diabetes in the Polish population.
[PMID 23922971] Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms
[PMID 22328738] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
| ClinVar | |
|---|---|
| Risk | rs11594656(A;A) |
| Alt | rs11594656(A;A) |
| Reference | rs11594656(T;T) |
| Significance | Other |
| Disease | Diabetes mellitus |
| Variation | info |
| Gene | |
| CLNDBN | Diabetes mellitus, insulin-dependent, 10 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.6122009T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015782.25, |
[PMID 32319410] [Relationship between Single Nucleotide Polymorphisms of IL2RA, IL-10 Gene and Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosisin in children].
