rs3118470
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 |
| Make rs3118470(C;C) |
| Make rs3118470(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 6059750 |
| Gene | IL2RA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3118470 |
| dbSNP (classic) | rs3118470 |
| ClinGen | rs3118470 |
| ebi | rs3118470 |
| HLI | rs3118470 |
| Exac | rs3118470 |
| Gnomad | rs3118470 |
| Varsome | rs3118470 |
| LitVar | rs3118470 |
| Map | rs3118470 |
| PheGenI | rs3118470 |
| Biobank | rs3118470 |
| 1000 genomes | rs3118470 |
| hgdp | rs3118470 |
| ensembl | rs3118470 |
| geneview | rs3118470 |
| scholar | rs3118470 |
| rs3118470 | |
| pharmgkb | rs3118470 |
| gwascentral | rs3118470 |
| openSNP | rs3118470 |
| 23andMe | rs3118470 |
| SNPshot | rs3118470 |
| SNPdbe | rs3118470 |
| MSV3d | rs3118470 |
| GWAS Ctlg | rs3118470 |
| GMAF | 0.3186 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| Rs3118470 | |
|---|---|
| PubMed | [PMID 17395754] |
| Affy Probeset | SNP_A-8598463 |
| Affy Orientation | reverse |
| On GW 5.0 | 0 |
| Alleles A/B | A/G |
| Ancestral | T |
| Population | |
| Allele | C |
| Case Freq. | |
| Control Freq. | |
| Odds Ratio Het | |
| Odds Ratio Hom | |
| Odds Ratio All | 1.28 |
| Disease | Type I Diabetes (T1D) |
rs3118470 increases susceptibility to Type I Diabetes 1.28 times for carriers of the C allele [PMID 17395754]
[PMID 19794070] A cis-Acting Regulatory Variant in the IL2RA Locus
[PMID 19956099
] The type I diabetes association of the IL2RA locus
[PMID 20615141] Association of the Protein Tyrosine Phosphatase Nonreceptor 22 Haplotypes with Autoimmune Thyroid Disease in the Japanese Population
| GWAS snp | |
|---|---|
| PMID | [PMID 20596022]
|
| Trait | Alopecia areata |
| Title | Genome-wide association study in alopecia areata implicates both innate and adaptive immunity |
| Risk Allele | G |
| P-val | 2E-12 |
| Odds Ratio | 1.41 [1.27-1.56] |
[PMID 22085902] Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis
[PMID 22211793] Polymorphic variants of the IL2RA gene and susceptibility to type 1 diabetes in the Polish population.
[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 18840781] Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
[PMID 19106270] Genetic association between the interleukin-2 receptor-alpha gene and mode of onset of type 1 diabetes in the Japanese population.
[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.
| GWAS snp | |
|---|---|
| PMID | [PMID 21833088]
|
| Trait | Multiple sclerosis |
| Title | Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. |
| Risk Allele | G |
| P-val | 3E-11 |
| Odds Ratio | 1.12 [1.1-1.13] |
[PMID 22213266] Functional polymorphism rs7072793 C > T affect individual susceptibility to breast cancer by modulating CD25 transcription activity.
[PMID 29979892] Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata.
