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rs7530511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 0 normal
(T;T) 2 9x increased risk for Graves disease
ReferenceGRCh38 38.1/141
Chromosome1
Position67219704
GeneIL23R
is asnp
is mentioned by
dbSNPrs7530511
ebirs7530511
HLIrs7530511
Exacrs7530511
Varsomers7530511
Maprs7530511
PheGenIrs7530511
hapmaprs7530511
1000 genomesrs7530511
hgdprs7530511
ensemblrs7530511
gopubmedrs7530511
geneviewrs7530511
scholarrs7530511
googlers7530511
pharmgkbrs7530511
gwascentralrs7530511
openSNPrs7530511
23andMers7530511
23andMe allrs7530511
SNP Nexus

SNPshotrs7530511
SNPdbers7530511
MSV3drs7530511
GWAS Ctlgrs7530511
GMAF0.1309
Max Magnitude2
? (C;C) (C;T) (T;T) 28

IL23R gene SNP, part of a haplotype with rs11209026 associated with psoriasis.[PMID 18219280OA-icon.png]

In a study of 216 North American patients with Graves' disease, the homozygous rs10889677(T;T) genotype was significantly associated with Graves' disease but not specifically with Graves ophthalmopathy; the odds ratio was 9.4 (p=0.02).[PMID 18073300OA-icon.png]

Neighborrs11465802
Distance210
[PMID 19705136OA-icon.png] Genetic evidence for involvement of the IL23 pathway in Thai psoriatics


[PMID 17236132OA-icon.png] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.


[PMID 18369459OA-icon.png] A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.


[PMID 18470928OA-icon.png] IL23R haplotypes provide a large population attributable risk for Crohn's disease.


[PMID 19021011] Association studies of the IL-23R gene in autoimmune thyroid disease in the Japanese population.


[PMID 19035472OA-icon.png] Investigation of association of the IL12B and IL23R genes with psoriatic arthritis.


[PMID 19040306] Association of interleukin 23 receptor variants with psoriatic arthritis.


[PMID 19522770] Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples.


[PMID 19757086] Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients.


[PMID 19918037OA-icon.png] Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.


[PMID 22378604] Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behcet's disease.


[PMID 23054009] Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis


GET Evidence
IL23R-L310P
aa_change Leu310Pro
aa_change_short L310P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.837516
summary



[PMID 23093722] Exploring ankylosing spondylitis-associated ERAP1, IL23R and IL12B gene polymorphisms in subphenotypes of psoriatic arthritis


[PMID 24140476] Genetic variations in IL6 and IL12B decreasing the risk for psoriasis


[PMID 22706445] Association of IL23R polymorphisms with psoriasis and psoriatic arthritis: a meta-analysis.


[PMID 22897389OA-icon.png] Interactions between adiposity and genetic polymorphisms on the risk of psoriasis.


[PMID 24912586OA-icon.png] A non-synonymous polymorphism in IL-23R Gene (rs1884444) is associated with reduced risk to schistosomiasis-associated Immune Reconstitution Inflammatory Syndrome in a Kenyan population