chr1:67240275:G>A Detail (hg38) (IL23R)

Information

Genome

Assembly Position
hg19 chr1:67,705,958-67,705,958 View the variant detail on this assembly version.
hg38 chr1:67,240,275-67,240,275

HGVS

Type Transcript Protein
RefSeq NM_144701.2:c.1142G>A NP_653302.2:p.Arg381Gln
Ensemble ENST00000347310.10:c.1142G>A ENST00000347310.10:p.Arg381Gln
ENST00000425614.3:c.377G>A ENST00000425614.3:p.Arg126Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607562 OMIM
HGNC 19100 HGNC
Ensembl ENSG00000162594 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1858448 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2010-04-01 no assertion criteria provided Inflammatory bowel disease 17, protection against germline Detail
protective 2010-04-01 no assertion criteria provided Psoriasis, protection against germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.371 Crohn Disease Genome-wide association study for Crohn's disease in the Quebec Founder Populati... GWASCAT 17804789 Detail
0.327 ulcerative colitis rs1004819 is the major IL23R variant associated with CD in the German population... BeFree 17786191 Detail
0.327 ulcerative colitis Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide ... GWASCAT 19122664 Detail
0.327 ulcerative colitis The aim of this study was to determine whether the specific rs11209026 and rs753... BeFree 24611330 Detail
0.340 Inflammatory Bowel Diseases This may result from the fact that rs11209026, the nonsynonymous SNP in IL23R, i... BeFree 19877036 Detail
0.173 Inflammatory Bowel Diseases IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a ... BeFree 17894849 Detail
0.012 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.008 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.183 Crohn Disease The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.234 ulcerative colitis One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... BeFree 20082483 Detail
0.327 ulcerative colitis [IL23R was expressed in both CD and UC with a great variability.] GAD 20192940 Detail
<0.001 arthropathy A trend was demonstrated for the minor allele of rs11209026 (IL23R) to be less f... BeFree 23093722 Detail
<0.001 stomach carcinoma Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.281 ankylosing spondylitis The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylo... BeFree 18199597 Detail
0.327 ulcerative colitis We confirm the association of CD with variants in the IL-23R and ATG16L1 genes a... BeFree 19276991 Detail
0.340 Inflammatory Bowel Diseases Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.009 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.340 Inflammatory Bowel Diseases The IL-23R allele was negatively associated with inflammatory bowel disease (IBD... BeFree 17309073 Detail
0.311 psoriasis The rare allele of a non-synonymous interleukin 23 receptor (IL23R) single nucle... BeFree 18647855 Detail
0.327 ulcerative colitis Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing ... GWASCAT 21297633 Detail
0.340 Inflammatory Bowel Diseases A recent study reported that a non-synonymous single nucleotide polymorphism (rs... BeFree 17877509 Detail
0.560 Crohn Disease One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... BeFree 20082483 Detail
<0.001 Superficial ulcer A trend was demonstrated for the minor allele of rs11209026 (IL23R) to be less f... BeFree 23093722 Detail
0.013 rheumatoid arthritis Evidence for association of an interleukin 23 receptor variant independent of th... BeFree 18647855 Detail
0.560 Crohn Disease We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 i... BeFree 25259511 Detail
0.033 rheumatoid arthritis IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheu... BeFree 22130325 Detail
0.013 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.371 Crohn Disease [Association of the interleukin-23 receptor gene variant rs11209026 with Crohn\'... GAD 20192940 Detail
0.007 Chronic ulcerative colitis [Our study provides additional support for the strong protection of the rs112090... GAD 20192940 Detail
0.009 Crohn Disease The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
<0.001 Malignant neoplasm of stomach Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.281 ankylosing spondylitis Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates pepti... GWASCAT 21743469 Detail
<0.001 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.371 Crohn Disease We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 i... BeFree 25259511 Detail
0.371 Crohn Disease IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a ... BeFree 17894849 Detail
0.368 Crohn Disease One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... BeFree 20082483 Detail
0.327 ulcerative colitis Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only agains... BeFree 17877509 Detail
0.327 ulcerative colitis We also provide further evidence for association of rs11209026 with UC and a rep... BeFree 17894849 Detail
0.371 Crohn Disease [One is SNP rs11209026 in exon 9 of IL23R for association with Crohn\'s disease,... GAD 22293688 Detail
0.371 Crohn Disease Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16) correspond to g... GWASCAT 17447842 Detail
0.327 ulcerative colitis Genome-wide association study of ulcerative colitis identifies three new suscept... GWASCAT 19915572 Detail
0.327 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
<0.001 Chronic inflammatory disorder Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.001 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.009 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.281 ankylosing spondylitis [Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates pept... GAD 21743469 Detail
0.033 ulcerative colitis We confirm the association of CD with variants in the IL-23R and ATG16L1 genes a... BeFree 19276991 Detail
0.131 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.240 inflammatory bowel disease 17 Genetic variants of the IL-23R pathway: association with psoriatic arthritis and... UNIPROT 18800148 Detail
0.126 Crohn Disease The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.397 Inflammatory Bowel Diseases rs11209026 and rs2241880 genotype distributions were examined both within IBD cl... BeFree 17894849 Detail
0.340 Inflammatory Bowel Diseases Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel d... GWASCAT 18758464 Detail
0.371 Crohn Disease Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only agains... BeFree 17877509 Detail
<0.001 Sacroiliitis Brief report: the IL23R nonsynonymous polymorphism rs11209026 is associated with... BeFree 23818276 Detail
<0.001 Salivary Gland Pleomorphic Adenoma We replicated the previously reported association with interleukin 23 receptor a... BeFree 18369459 Detail
0.371 Crohn Disease One is SNP rs11209026 in exon 9 of IL23R for association with Crohn's disease, w... GWASCAT 22293688 Detail
<0.001 Arthritis, Psoriatic All 3-marker sliding windows containing SNP rs11209026 were associated with PsA ... BeFree 19040306 Detail
0.311 psoriasis We and others have shown that the minor, nonconserved allele Gln381 of the Arg38... BeFree 23563201 Detail
0.368 Crohn Disease IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a ... BeFree 17894849 Detail
0.120 Inflammatory dermatosis Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insigh... GWASCAT 25574825 Detail
0.013 rheumatoid arthritis IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheu... BeFree 22130325 Detail
0.295 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
<0.001 Acute GVH disease Among recipients of hematopoietic cells from HLA-identical donors, the IL-23R (A... BeFree 18209723 Detail
0.034 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.001 psoriasis Additionally, observed stronger associations with SNPs rs11209026 and rs11465804... BeFree 19189980 Detail
<0.001 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.281 ankylosing spondylitis Genome-wide association study of ankylosing spondylitis identifies non-MHC susce... GWASCAT 20062062 Detail
<0.001 Salivary Gland Pleomorphic Adenoma We replicated the previously reported association with interleukin 23 receptor a... BeFree 18369459 Detail
0.425 rheumatoid arthritis The present study aimed to determine the association between the polymorphic var... BeFree 25387578 Detail
0.154 Crohn Disease After Bonferroni correction for multiple testing, both the homozygous and the he... BeFree 24971461 Detail
0.371 Crohn Disease After Bonferroni correction for multiple testing, both the homozygous and the he... BeFree 24971461 Detail
<0.001 Chronic inflammatory disorder Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.311 psoriasis Genome-wide association studies have shown that the IL23R R381Q gene variant pro... BeFree 21364948 Detail
0.340 Inflammatory Bowel Diseases IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel diseas... BeFree 19103525 Detail
0.371 Crohn Disease Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's diseas... GWASCAT 21102463 Detail
0.340 Inflammatory Bowel Diseases After Bonferroni correction for multiple testing, both the homozygous and the he... BeFree 24971461 Detail
0.311 psoriasis A genome-wide association study identifies new psoriasis susceptibility loci and... GWASCAT 20953190 Detail
0.033 ulcerative colitis One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... BeFree 20082483 Detail
0.187 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.371 Crohn Disease Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric... BeFree 18030204 Detail
<0.001 Spondylarthritis Brief report: the IL23R nonsynonymous polymorphism rs11209026 is associated with... BeFree 23818276 Detail
0.303 psoriasis We replicated the previously reported association with interleukin 23 receptor a... BeFree 18369459 Detail
0.371 Crohn Disease Association of the interleukin-23 receptor gene variant rs11209026 with Crohn's ... BeFree 20192940 Detail
<0.001 Pediatric Crohn's disease We confirmed the findings that the IL-23 receptor gene coding variant allele R38... BeFree 18030204 Detail
0.371 Crohn Disease One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... BeFree 20082483 Detail
0.340 Inflammatory Bowel Diseases Host-microbe interactions have shaped the genetic architecture of inflammatory b... GWASCAT 23128233 Detail
0.327 ulcerative colitis The results suggest that IL23R R381Q confers protection against CD and that L310... BeFree 19294505 Detail
0.311 psoriasis This study aims to assess whether the association between the non-susceptibility... BeFree 24140476 Detail
0.340 Inflammatory Bowel Diseases IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a ... BeFree 17894849 Detail
0.120 Inflammatory Bowel Diseases The IL-23R allele was negatively associated with inflammatory bowel disease (IBD... BeFree 17309073 Detail
0.002 stomach carcinoma Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.371 Crohn Disease A genome-wide association study on a southern European population identifies a n... GWASCAT 22936669 Detail
0.371 Crohn Disease A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibi... GWASCAT 22412388 Detail
0.281 ankylosing spondylitis The nonsynonymous single-nucleotide polymorphism (SNP) rs11209026 (Arg381Gln) in... BeFree 23818276 Detail
0.371 Crohn Disease Recent studies have shown that a nonsynonymous single-nucleotide polymorphism (S... BeFree 18383363 Detail
0.327 ulcerative colitis One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... BeFree 20082483 Detail
0.311 psoriasis We replicated the previously reported association with interleukin 23 receptor a... BeFree 18369459 Detail
0.002 Malignant neoplasm of stomach Variants of IL23R gene were investigated for association with many diseases like... BeFree 25666505 Detail
0.281 ankylosing spondylitis Genome-wide association studies have shown that the IL23R R381Q gene variant pro... BeFree 21364948 Detail
0.340 Inflammatory Bowel Diseases [IL23R expression was variable in IBD patients compared with controls without si... GAD 20192940 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) AND Inflammatory bowel disease 17, protection against ClinVar Detail
NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) AND Psoriasis, protection against ClinVar Detail
NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) AND not provided ClinVar Detail
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... DisGeNET Detail
rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381... DisGeNET Detail
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. DisGeNET Detail
The aim of this study was to determine whether the specific rs11209026 and rs7530511 single-nucleoti... DisGeNET Detail
This may result from the fact that rs11209026, the nonsynonymous SNP in IL23R, is not polymorphic in... DisGeNET Detail
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... DisGeNET Detail
[IL23R was expressed in both CD and UC with a great variability.] DisGeNET Detail
A trend was demonstrated for the minor allele of rs11209026 (IL23R) to be less frequent in patients ... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. DisGeNET Detail
We confirm the association of CD with variants in the IL-23R and ATG16L1 genes and the more modest a... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The IL-23R allele was negatively associated with inflammatory bowel disease (IBD): the R381Q SNP was... DisGeNET Detail
The rare allele of a non-synonymous interleukin 23 receptor (IL23R) single nucleotide polymorphism (... DisGeNET Detail
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confir... DisGeNET Detail
A recent study reported that a non-synonymous single nucleotide polymorphism (rs11209026, p.Arg381Gl... DisGeNET Detail
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... DisGeNET Detail
A trend was demonstrated for the minor allele of rs11209026 (IL23R) to be less frequent in patients ... DisGeNET Detail
Evidence for association of an interleukin 23 receptor variant independent of the R381Q variant with... DisGeNET Detail
We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in contro... DisGeNET Detail
IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheumatoid arthritis. DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
[Association of the interleukin-23 receptor gene variant rs11209026 with Crohn\'s disease in German ... DisGeNET Detail
[Our study provides additional support for the strong protection of the rs11209026 (p.] DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the m... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in contro... DisGeNET Detail
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand... DisGeNET Detail
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... DisGeNET Detail
Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease bu... DisGeNET Detail
We also provide further evidence for association of rs11209026 with UC and a report of an additive e... DisGeNET Detail
[One is SNP rs11209026 in exon 9 of IL23R for association with Crohn\'s disease, which is predicted ... DisGeNET Detail
Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16) correspond to genes previously repo... DisGeNET Detail
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, includ... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
[Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the ... DisGeNET Detail
We confirm the association of CD with variants in the IL-23R and ATG16L1 genes and the more modest a... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris,... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
rs11209026 and rs2241880 genotype distributions were examined both within IBD clinical subphenotypes... DisGeNET Detail
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. DisGeNET Detail
Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease bu... DisGeNET Detail
Brief report: the IL23R nonsynonymous polymorphism rs11209026 is associated with radiographic sacroi... DisGeNET Detail
We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... DisGeNET Detail
One is SNP rs11209026 in exon 9 of IL23R for association with Crohn's disease, which is predicted to... DisGeNET Detail
All 3-marker sliding windows containing SNP rs11209026 were associated with PsA (p=0.02 for all 3 wi... DisGeNET Detail
We and others have shown that the minor, nonconserved allele Gln381 of the Arg381Gln single-nucleoti... DisGeNET Detail
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand... DisGeNET Detail
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing gene... DisGeNET Detail
IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheumatoid arthritis. DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Among recipients of hematopoietic cells from HLA-identical donors, the IL-23R (Arg381Gln) gene varia... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Additionally, observed stronger associations with SNPs rs11209026 and rs11465804 upon exclusion of I... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. DisGeNET Detail
We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... DisGeNET Detail
The present study aimed to determine the association between the polymorphic variants of the IL-17A ... DisGeNET Detail
After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... DisGeNET Detail
After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
Genome-wide association studies have shown that the IL23R R381Q gene variant protects against psoria... DisGeNET Detail
IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel disease. DisGeNET Detail
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loc... DisGeNET Detail
After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... DisGeNET Detail
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction betw... DisGeNET Detail
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn dis... DisGeNET Detail
Brief report: the IL23R nonsynonymous polymorphism rs11209026 is associated with radiographic sacroi... DisGeNET Detail
We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... DisGeNET Detail
Association of the interleukin-23 receptor gene variant rs11209026 with Crohn's disease in German ch... DisGeNET Detail
We confirmed the findings that the IL-23 receptor gene coding variant allele R381Q appears to decrea... DisGeNET Detail
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... DisGeNET Detail
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. DisGeNET Detail
The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection... DisGeNET Detail
This study aims to assess whether the association between the non-susceptibility allelic variants of... DisGeNET Detail
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand... DisGeNET Detail
The IL-23R allele was negatively associated with inflammatory bowel disease (IBD): the R381Q SNP was... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
A genome-wide association study on a southern European population identifies a new Crohn's disease s... DisGeNET Detail
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. DisGeNET Detail
The nonsynonymous single-nucleotide polymorphism (SNP) rs11209026 (Arg381Gln) in the IL23R gene has ... DisGeNET Detail
Recent studies have shown that a nonsynonymous single-nucleotide polymorphism (SNP) (Arg381Gln; rs11... DisGeNET Detail
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... DisGeNET Detail
We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... DisGeNET Detail
Variants of IL23R gene were investigated for association with many diseases like chronic inflammator... DisGeNET Detail
Genome-wide association studies have shown that the IL23R R381Q gene variant protects against psoria... DisGeNET Detail
[IL23R expression was variable in IBD patients compared with controls without significant overexpres... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11209026 dbSNP
Genome
hg38
Position
chr1:67,240,275-67,240,275
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1202
Mean of sample read depth (HGVD)
37.04
Standard deviation of sample read depth (HGVD)
15.22
Number of reference allele (HGVD)
2403
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1597337770382697E-4
Gene Symbol (HGVD)
IL23R
East Asian Chromosome Counts (ExAC)
8536
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6860356138706655E-4
Chromosome Counts in All Race (ExAC)
118948
Allele Counts in All Race (ExAC)
5021
Heterozygous Counts in All Race (ExAC)
4723
Homozygous Counts in All Race (ExAC)
149
Allele Frequency in All Race (ExAC)
0.042211722769613616
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