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rs11805303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.4x risk of Crohn's disease
(T;T) 1.8x risk of Crohn's disease
ReferenceGRCh38 38.1/141
Chromosome1
Position67209833
GeneIL23R
is asnp
is mentioned by
dbSNPrs11805303
ebirs11805303
HLIrs11805303
Exacrs11805303
Varsomers11805303
Maprs11805303
PheGenIrs11805303
hapmaprs11805303
1000 genomesrs11805303
hgdprs11805303
ensemblrs11805303
gopubmedrs11805303
geneviewrs11805303
scholarrs11805303
googlers11805303
pharmgkbrs11805303
gwascentralrs11805303
openSNPrs11805303
23andMers11805303
23andMe allrs11805303
SNP Nexus

SNPshotrs11805303
SNPdbers11805303
MSV3drs11805303
GWAS Ctlgrs11805303
GMAF0.3333
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs11805303 has been reported in a large study to be associated with Crohn's disease.

The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 1.39 (CI 1.22-1.58), and for homozygotes, 1.86 (CI 1.54-2.24). [PMID 17554300OA-icon.png]

OMIM612261
DescINFLAMMATORY BOWEL DISEASE 17; IBD17
Variant
Relatedalso
OMIM607562
DescINTERLEUKIN 23 RECEPTOR; IL23R
Variant
Relatedalso
[PMID 18438406OA-icon.png] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.


[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 19249008OA-icon.png] Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.


[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 20978829] Polymorphisms of the IL23R gene are associated with psoriasis but not with immunoglobulin A nephropathy in a Hungarian population.


[PMID 22426692] Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort.


GET Evidence
rs11805303
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.3125
summary



[PMID 23093364] Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis