rs11465804

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

67236843

Gene

IL23R

is a	snp
is	mentioned by
dbSNP	rs11465804
dbSNP (classic)	rs11465804
ClinGen	rs11465804
ebi	rs11465804
HLI	rs11465804
Exac	rs11465804
Gnomad	rs11465804
Varsome	rs11465804
LitVar	rs11465804
Map	rs11465804
PheGenI	rs11465804
Biobank	rs11465804
1000 genomes	rs11465804
hgdp	rs11465804
ensembl	rs11465804
geneview	rs11465804
scholar	rs11465804
google	rs11465804
pharmgkb	rs11465804
gwascentral	rs11465804
openSNP	rs11465804
23andMe	rs11465804
SNPshot	rs11465804
SNPdbe	rs11465804
MSV3d	rs11465804
GWAS Ctlg	rs11465804

GMAF

0.03903

Max Magnitude

1.5

?

(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 17804789 ]
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 18587394 ]
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 20570966 ]
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 22269043 ] Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population

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

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

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

[PMID 17786191 ] 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 18369459 ] 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 18758464 ] Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.

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

[PMID 19175939 ] 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 19408013 ] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

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

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

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

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

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

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

[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

[PMID 29228965 ] Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.

[PMID 31615448 ] Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis.