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rs11465804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 1.5 0.68x lower risk for spondylitis
(G;T) 1.5 0.68x lower risk for spondylitis
(T;T) 0 normal risk
ReferenceGRCh38 38.1/141
Chromosome1
Position67236843
GeneIL23R
is asnp
is mentioned by
dbSNPrs11465804
ebirs11465804
HLIrs11465804
Exacrs11465804
Varsomers11465804
Maprs11465804
PheGenIrs11465804
hapmaprs11465804
1000 genomesrs11465804
hgdprs11465804
ensemblrs11465804
gopubmedrs11465804
geneviewrs11465804
scholarrs11465804
googlers11465804
pharmgkbrs11465804
gwascentralrs11465804
openSNPrs11465804
23andMers11465804
23andMe allrs11465804
SNP Nexus

SNPshotrs11465804
SNPdbers11465804
MSV3drs11465804
GWAS Ctlgrs11465804
GMAF0.03903
Max Magnitude1.5
? (G;G) (G;T) (T;T) 28
rs11465804 is one of several SNPs in the IL23R gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.68 (p=0.0002).[PMID 17952073, PMID 18037607]
GWAS
SNP rs11465804
PubMedID [PMID 17804789OA-icon.png]
Condition Crohn's disease
Gene IL23R
Risk Allele
pValue 1.00E-008
OR 1.38
95% CI 1.23-1.53


GWAS snp
PMID [PMID 18587394OA-icon.png]
Trait Crohn's disease
Title Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
Risk Allele T
P-val 7.0000000000000001E-63
Odds Ratio 2.50 [NR]


GWAS snp
PMID [PMID 20570966OA-icon.png]
Trait Crohn's disease
Title Fucosyltransferase 2(FUT2) Non-Secretor Status is associated with Crohn's Disease
Risk Allele
P-val 0.000001
Odds Ratio 1.89 [1.47-2.44]


[PMID 22089529] Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis


[PMID 22269043OA-icon.png] Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population


[PMID 22440928OA-icon.png] Perianal Crohn's Disease: Predictive Factors and Genotype-Phenotype Correlations


[PMID 17068223OA-icon.png] A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.


[PMID 17447842OA-icon.png] Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.


[PMID 17786191OA-icon.png] rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.


[PMID 18047539] Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: results from a case-control and family-based study among Canadian children.


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


[PMID 18383363] Association of interleukin-23 receptor variants with ankylosing spondylitis.


[PMID 18758464OA-icon.png] Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.


[PMID 19122664OA-icon.png] Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.


[PMID 19175939OA-icon.png] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.


[PMID 19189980] Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series.


[PMID 19408013OA-icon.png] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.


[PMID 19468064OA-icon.png] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.


[PMID 19557189OA-icon.png] Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.


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


[PMID 20018022OA-icon.png] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.


[PMID 20454450OA-icon.png] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.


[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.


GET Evidence
rs11465804
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0591188
summary



[PMID 23725363] Predicting complicated Crohn's disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort.


[PMID 24998354] Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis