{{Rsnum
|rsid=12722489
|Gene=IL2RA
|Chromosome=10
|position=6102012
|Orientation=minus
|GMAF=0.09642
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 2.7 | 29.2 | 68.1
| HCB | 2.2 | 22.8 | 75.0
| JPT | 1.8 | 21.2 | 77.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 1.8 | 5.3 | 93.0
| CHB | 2.2 | 22.8 | 75.0
| CHD | 1.8 | 22.9 | 75.2
| GIH | 1.0 | 18.8 | 80.2
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 8.6 | 91.4
| MKK | 0.0 | 3.2 | 96.8
| TSI | 3.9 | 20.6 | 75.5
| HapMapRevision=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]]. {{doi|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.

[http://thegenesherpa.blogspot.com/2007/07/ms-genes-and-gwas.html blog post] giving perspective on the significance of this snp

[http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000322 plos] [[rs12722489]] and [[rs2104286]] influence [[multiple sclerosis]] and [[type-1 diabetes]] 

{{ neighbor
| rsid = 3118470
| distance = 299
}}

{{GWAS Summary
|SNP=rs12722489
|PubMedID=17660530
|Condition=Multiple sclerosis
|Gene=IL2RA
|Risk Allele=C
|pValue=3.00E-008
|OR=1.25
|95CI=1.11-1.36
}}

{{omim
|desc=MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2
|id=612594
|rsnum=12722489
}}

{{PharmGKB
|RSID=rs12722489
|Name_s=
|Gene_s=IL2RA
|Feature=
|Evidence=PubMed ID:17660530; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Risk alleles for multiple sclerosis identified by a genomewide study (Initial Sample Size: 931 trios, 2,431 controls; Replication Sample Size: 609 trios, 2,322 cases, 2,987 controls; Risk Allele: rs12722489-C).
|Drugs=
|Drug Classes=
|Diseases=Multiple Sclerosis
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356683
}}

{{PharmGKB
|RSID=rs12722489
|Name_s=
|Gene_s=IL2RA
|Feature=
|Evidence=PubMed ID:17660530
|Annotation=In a replicated GWAS of U.K. and U.S. case/parent trios, this variant was shown to be associated with multiple sclerosis risk.
|Drugs=
|Drug Classes=
|Diseases=Multiple Sclerosis
|Curation Level=Curated
|PharmGKB Accession ID=PA162356160
}}

{{PMID Auto GWAS
|PMID=21102463
|Trait=None
|Title=Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
|RiskAllele=C
|Pval=3E-9
|OR=1.1100
|ORtxt=[1.05-1.16]
|OA=1
}}

{{PMID Auto
|PMID=21239413
|Title=Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA
}}

{{PMID Auto
|PMID=22117963
|Title=Interleukin 2 Receptor ? Gene Polymorphism and Risk of Multiple Sclerosis: a Meta-analysis
}}

{{PMID Auto GWAS
|PMID=22190364
|Trait=None
|Title=Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
|RiskAllele=C
|Pval=4E-8
|OR=1.2300
|ORtxt=None
|OA=1
}}

{{PMID|18224336|OA=1
}} 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|OA=1
}} The complex genetics of multiple sclerosis: pitfalls and prospects.

{{PMID|18565446|OA=1
}} Refining genetic associations in multiple sclerosis.

{{PMID|19119414|OA=1
}} IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.

{{PMID|19125193|OA=1
}} IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).

{{PMID|19155502|OA=1
}} Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses.

{{PMID|20007504|OA=1
}} Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.

{{PMID|20182566|OA=1
}} The genetic aspects of multiple sclerosis.

{{PMID|20405052|OA=1
}} 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?

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12722489
|overall_frequency_n=15
|overall_frequency_d=128
|overall_frequency=0.117188
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=14
|n_articles=2
|n_articles_annotated=2
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=24332945
|Title=Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}