rs12722489
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | a slight increase in risk of developing multiple sclerosis | |
| (G;G) | a slight increase in risk of developing multiple sclerosis |
| Make rs12722489(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 6060049 |
| Gene | IL2RA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12722489 |
| dbSNP (classic) | rs12722489 |
| ClinGen | rs12722489 |
| ebi | rs12722489 |
| HLI | rs12722489 |
| Exac | rs12722489 |
| Gnomad | rs12722489 |
| Varsome | rs12722489 |
| LitVar | rs12722489 |
| Map | rs12722489 |
| PheGenI | rs12722489 |
| Biobank | rs12722489 |
| 1000 genomes | rs12722489 |
| hgdp | rs12722489 |
| ensembl | rs12722489 |
| geneview | rs12722489 |
| scholar | rs12722489 |
| rs12722489 | |
| pharmgkb | rs12722489 |
| gwascentral | rs12722489 |
| openSNP | rs12722489 |
| 23andMe | rs12722489 |
| SNPshot | rs12722489 |
| SNPdbe | rs12722489 |
| MSV3d | rs12722489 |
| GWAS Ctlg | rs12722489 |
| GMAF | 0.09642 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
The (G) allele of rs12722489, located in the first intron of the IL2RA gene, is associated with a slight increase (25%) in risk of developing multiple sclerosis. 10.1056/NEJMoa073493[PMID tbd; NEJM 357, 29 July 2007, DA Hafler et al.]
Note that the (G) allele is the most common at this position in all known populations.
blog post giving perspective on the significance of this snp
plos rs12722489 and rs2104286 influence multiple sclerosis and type-1 diabetes
| GWAS | |
|---|---|
| SNP | rs12722489 |
| PubMedID | [PMID 17660530] |
| Condition | Multiple sclerosis |
| Gene | IL2RA |
| Risk Allele | C |
| pValue | 3.00E-008 |
| OR | 1.25 |
| 95% CI | 1.11-1.36 |
| GWAS snp | |
|---|---|
| PMID | [PMID 21102463 ]
|
| Trait | |
| Title | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci |
| Risk Allele | C |
| P-val | 3E-9 |
| Odds Ratio | 1.1100 [1.05-1.16] |
[PMID 21239413] Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA
[PMID 22117963] Interleukin 2 Receptor ? Gene Polymorphism and Risk of Multiple Sclerosis: a Meta-analysis
| GWAS snp | |
|---|---|
| PMID | [PMID 22190364]
|
| Trait | |
| Title | Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. |
| Risk Allele | C |
| P-val | 4E-8 |
| Odds Ratio | 1.2300 None |
[PMID 18224336] Haplotypic analysis of Wellcome Trust Case Control Consortium data.
[PMID 18354419] IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations.
[PMID 18490360] The complex genetics of multiple sclerosis: pitfalls and prospects.
[PMID 18565446] Refining genetic associations in multiple sclerosis.
[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 19155502] Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses.
[PMID 20007504] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
[PMID 20182566] The genetic aspects of multiple sclerosis.
[PMID 20405052] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
[PMID 21911588] IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways?
[PMID 24332945] Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese
[PMID 32319410] [Relationship between Single Nucleotide Polymorphisms of IL2RA, IL-10 Gene and Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosisin in children].
