rs7530511
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 0 | normal |
| (T;T) | 2 | 9x increased risk for Graves disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 67219704 |
| Gene | IL23R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7530511 |
| dbSNP (classic) | rs7530511 |
| ClinGen | rs7530511 |
| ebi | rs7530511 |
| HLI | rs7530511 |
| Exac | rs7530511 |
| Gnomad | rs7530511 |
| Varsome | rs7530511 |
| LitVar | rs7530511 |
| Map | rs7530511 |
| PheGenI | rs7530511 |
| Biobank | rs7530511 |
| 1000 genomes | rs7530511 |
| hgdp | rs7530511 |
| ensembl | rs7530511 |
| geneview | rs7530511 |
| scholar | rs7530511 |
| rs7530511 | |
| pharmgkb | rs7530511 |
| gwascentral | rs7530511 |
| openSNP | rs7530511 |
| 23andMe | rs7530511 |
| SNPshot | rs7530511 |
| SNPdbe | rs7530511 |
| MSV3d | rs7530511 |
| GWAS Ctlg | rs7530511 |
| GMAF | 0.1309 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
IL23R gene SNP, part of a haplotype with rs11209026 associated with psoriasis.[PMID 18219280
]
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 18073300]
[PMID 19705136] Genetic evidence for involvement of the IL23 pathway in Thai psoriatics
[PMID 17236132] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
[PMID 18369459] A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.
[PMID 18470928] 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 19035472] 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 19918037] 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
[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 22897389] Interactions between adiposity and genetic polymorphisms on the risk of psoriasis.
[PMID 24912586] 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
[PMID 28210080] IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.
