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rs12722489

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/142
Chromosome10
Position6060049
GeneIL2RA
is asnp
is mentioned by
dbSNPrs12722489
ebirs12722489
HLIrs12722489
Exacrs12722489
Varsomers12722489
Maprs12722489
PheGenIrs12722489
hapmaprs12722489
1000 genomesrs12722489
hgdprs12722489
ensemblrs12722489
gopubmedrs12722489
geneviewrs12722489
scholarrs12722489
googlers12722489
pharmgkbrs12722489
gwascentralrs12722489
openSNPrs12722489
23andMers12722489
23andMe allrs12722489
SNP Nexus

SNPshotrs12722489
SNPdbers12722489
MSV3drs12722489
GWAS Ctlgrs12722489
GMAF0.09642
Max Magnitude
? (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

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


OMIM612594
DescMULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2
Variant
Relatedalso



GWAS snp
PMID [PMID 21102463OA-icon.png]
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 22190364OA-icon.png]
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 18224336OA-icon.png] 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 18490360OA-icon.png] The complex genetics of multiple sclerosis: pitfalls and prospects.

[PMID 18565446OA-icon.png] Refining genetic associations in multiple sclerosis.

[PMID 19119414OA-icon.png] IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.

[PMID 19125193OA-icon.png] IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).

[PMID 19155502OA-icon.png] Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses.

[PMID 20007504OA-icon.png] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.

[PMID 20182566OA-icon.png] The genetic aspects of multiple sclerosis.

[PMID 20405052OA-icon.png] 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
rs12722489
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.117188
summary



[PMID 24332945] Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese