Rs12722489

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is asnp
is mentioned by
dbSNPrs12722489
hapmaprs12722489
hgdprs12722489
ensemblrs12722489
gopubmedrs12722489
scholarrs12722489
googlers12722489
pharmgkbrs12722489
hgvbaseg2prs12722489
medrefsnprs12722489
23andMers12722489
SNP Nexus

GeneIL2RA
Chromosome10
Orientationminus
Position6142017
GenotypeEffect
rs12722489(A;A)*?
rs12722489(A;G)*?
rs12722489(G;G)*?


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

? (A;A) (A;G) (G;G)
Neighborrs3118470
Distance299
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


Related to MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2 according to omim 612594. See also


PharmGKBPA162356160
Name
AnnotationIn a replicated GWAS of U.K. and U.S. case/parent trios, this variant was shown to be associated with multiple sclerosis risk.
GeneIL2RA
Featue
EvidencePubMed ID:17660530
Drugs
DiseasesMultiple Sclerosis
Curation LevelCurated