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rs11594656

From SNPedia

Orientationplus
Stabilizedplus
Make rs11594656(A;A)
Make rs11594656(A;T)
Make rs11594656(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position6080046
is asnp
is mentioned by
dbSNPrs11594656
dbSNP (classic)rs11594656
ClinGenrs11594656
ebirs11594656
HLIrs11594656
Exacrs11594656
Gnomadrs11594656
Varsomers11594656
LitVarrs11594656
Maprs11594656
PheGenIrs11594656
Biobankrs11594656
1000 genomesrs11594656
hgdprs11594656
ensemblrs11594656
geneviewrs11594656
scholarrs11594656
googlers11594656
pharmgkbrs11594656
gwascentralrs11594656
openSNPrs11594656
23andMers11594656
SNPshotrs11594656
SNPdbers11594656
MSV3drs11594656
GWAS Ctlgrs11594656
GMAF0.1602
Max Magnitude0
? (A;A) (A;T) (T;T) 28


Rs11594656
PubMed [PMID 17676041]
Affy Probeset SNP_A-8400635
Affy Orientation reverse
On GW 5.0 0
Alleles A/B A/T
Ancestral T
Population CEU
Allele T
Case Freq. 0.78
Control Freq. 0.75
Odds Ratio Het 1.19
Odds Ratio Hom 1.38
Odds Ratio All 1.22
Disease Type I Diabetes (T1D)


rs11594656 increases susceptibility to Type I Diabetes 1.19 times for heterozygotes (AT) and 1.38 times for homozygotes (TT) [PMID 17676041]


[PMID 19265545OA-icon.png] Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis.

OMIM147730
DescINTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA
Variant
Relatedalso


[PMID 19956099OA-icon.png] The type I diabetes association of the IL2RA locus


[PMID 20033399] Single-nucleotide polymorphisms in the IL2RA gene are associated with age at diagnosis in late-onset Finnish type 1 diabetes subjects

OMIM147730
Desc
Variant0003
Relatedalso


[PMID 22012429] The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis


[PMID 17554260OA-icon.png] Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.


[PMID 18556337OA-icon.png] 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 18776148OA-icon.png] Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.


[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.


[PMID 19106270] Genetic association between the interleukin-2 receptor-alpha gene and mode of onset of type 1 diabetes in the Japanese population.


[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 19701192OA-icon.png] Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.


[PMID 19956101OA-icon.png] Overview of the Rapid Response data.


[PMID 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.


[PMID 20179739OA-icon.png] Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.


[PMID 20236493OA-icon.png] The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis.


[PMID 21815908] A variant of the Il2ra / Cd25 gene predisposing to graves' disease is associated with increased levels of soluble interleukin-2 receptor.


[PMID 22211793] Polymorphic variants of the IL2RA gene and susceptibility to type 1 diabetes in the Polish population.


[PMID 23922971OA-icon.png] Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms


[PMID 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.


ClinVar
Risk rs11594656(A;A)
Alt rs11594656(A;A)
Reference rs11594656(T;T)
Significance Other
Disease Diabetes mellitus
Variation info
Gene
CLNDBN Diabetes mellitus, insulin-dependent, 10
Reversed 0
HGVS NC_000010.10:g.6122009T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015782.25,



[PMID 32319410] [Relationship between Single Nucleotide Polymorphisms of IL2RA, IL-10 Gene and Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosisin in children].