Rs7517847

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SNP Nexus

GeneIL23R
Chromosome1
Orientationplus
Position67454256
GenotypeEffect
rs7517847(G;G)0.65x reduced risk for Crohn's disease
rs7517847(G;T)possibly reduced risk for Crohn's disease
rs7517847(T;T)normal


Genotypes Magnitude Summary
Rs7517847(G;G) 0.65x reduced risk for Crohn's disease
Rs7517847(G;T) possibly reduced risk for Crohn's disease
Rs7517847(T;T) 00 normal

[PMID 18047539] significant associations with rs1004819, rs7517847, and rs11209026. Having any CARD15 variant was associated with a significant risk for Crohn's disease (P < 0.0001).

[PMID 17508420] rs7517847 (P=4.9x10(-9), OR 0.65, 0.56-0.75), is statistically independent of rs11209026.

[PMID 18698678] Replicated reduced risk for Crohn's disease with the rs7517847(G) allele in a study of Italian patients, but not ulcerative colitis.

? (G;G) (G;T) (T;T)
GWAS
SNP rs7517847
PubMedID [PMID 17068223]
Condition Inflammatory bowel disease
Gene IL23R
Risk Allele C
pValue 4.00E-013
OR 1.61
95% CI 1.35-1.92


GWAS snp
PMID [PMID 17435756]
Trait Crohn's disease
Title Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
Risk Allele
P-val 3.0000000000000001E-12
Odds Ratio NR NR
Related to INFLAMMATORY BOWEL DISEASE 17; IBD17 according to omim 612261. See also


Related to INTERLEUKIN 23 RECEPTOR; IL23R according to omim 607562. See also


[PMID 19034457] Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility

[PMID 19895338] The Association Between Interleukin-23 Receptor Gene Polymorphisms and Systemic Lupus Erythematosus

PharmGKBPA162356596
Name
AnnotationGWAS Results: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene (Initial Sample Size: 547 cases, 548 controls; Replication Sample Size: 401 cases, 433 controls, 883 families, 1,119 affected offspring; Risk Allele: rs7517847-C).
GeneIL23R
Featue
EvidencePubMed ID:17068223; Web Resource:http://www.genome.gov/gwastudies/
Drugs
DiseasesInflammatory Bowel Diseases
Curation LevelNon-Curated


[PMID 20157760] Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis