Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7517847
rs7517847
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.720 GeneticVariation BEFREE The rs11209026 and rs7517847 nucleotide substitutions were determined in 353 German children with IBD (221 CD, 132 UC) and 253 controls using pre-designed TaqMan((R)) SNP genotyping assays. 20192940 2010
dbSNP: rs7517847
rs7517847
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.720 GeneticVariation BEFREE The data show an association of both IL23R SNPs with overall IBD (statistically stronger, rs7517847; odds ratio [OR] = 0.79, 95% confidence interval [CI]: 0.67-0.94, minor allele frequencies: 0.355 in IBD patients versus 0.410 in controls; P = 0.005), somewhat stronger in Crohn's disease (OR = 0.74, 95% CI: 0.61-0.91) than in ulcerative colitis (OR = 0.84, 95% CI: 0.69-1.03). 18383521 2008
dbSNP: rs7517847
rs7517847
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
C 0.720 GeneticVariation GWASDB A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223 2006
dbSNP: rs1004819
rs1004819
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.020 GeneticVariation BEFREE This study was aimed to investigate the possible association of Crohn's disease (CD) with inflammatory bowel disease gene 5 (IBD5) IGR2198a_1 (rs11739135), IGR2096a_1 (rs12521868) and interleukin-23 receptor (IL23R) genetic variant (rs1004819) in the Malaysian population. 22908971 2012
dbSNP: rs1004819
rs1004819
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.020 GeneticVariation BEFREE IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC. 17786191 2007
dbSNP: rs11465797
rs11465797
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE We genotyped three nonsynonymous IL-23R SNPs with amino acid changes (rs11209026, p.Arg381Gln; rs41313262 p.Val362Ile and rs11465797 p.Thr175Asn) in 198 patients with IBD (124 UC and 74 CD) and 100 healthy controls. 27765927 2016
dbSNP: rs7530511
rs7530511
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE To replicate the association of IL23R R381Q (rs11209026) with inflammatory bowel disease (IBD), examine the effect of the two nonsynonymous variations, Q3H and L310P, on IBD, and to study gender distribution of these variants in IBD patients. 19294505 2010
dbSNP: rs758102857
rs758102857
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE We genotyped 1028 IBD patients, including 443 CD and 347 ulcerative colitis (UC) non-Jewish cases, 238 (183 CD and 55 UC) Jewish cases, and 1005 ethnically matched control subjects for 18 and 11 variants, respectively, in the IL-23R and ATG16L1 genes, including the IL-23R (R381Q) and ATG16L1 (T216A) variants, previously associated with CD. 19276991 2009
dbSNP: rs376377228
rs376377228
Entrez Id: 149233;400757
Gene Symbol: IL23R;C1orf141
IL23R;C1orf141
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE The IL17F p.His161Arg polymorphism is not associated with IBD susceptibility and has no epistatic interaction with CD-associated IL23R variants. 18088064 2008