rs1004819

A SNP in the IL23R gene on chromosome 1. Its most notable genotype is G;G: 1.5x risk of Crohn's disease, 1.2 for developing ankylosing spondylitis

Gene
IL23R
Location
Chr 167,204,530 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
36%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBad1.5x risk of Crohn's disease, 1.2 for developing ankylosing spondylitisMinor · 1.037% of people
  2. A;GBad1.5x risk of Crohn's disease, 1.2 for developing ankylosing spondylitisMinor · 1.046% of people
  3. A;ANot ratedcommonTypical · 0.017% of people

SNPedia records rs1004819 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 37% A;G 46% A;A 17%
  • European ancestry (Utah)G;G 51% A;G 40% A;A 9%
  • Han Chinese (Beijing)G;G 18% A;G 50% A;A 31%
  • Japanese (Tokyo)G;G 20% A;G 47% A;A 34%
  • Yoruba (Nigeria)G;G 42% A;G 48% A;A 10%
  • African ancestry (Southwest US)G;G 47% A;G 51% A;A 2%
  • Chinese (Denver)G;G 15% A;G 49% A;A 37%
  • Gujarati IndianG;G 18% A;G 50% A;A 33%
  • Luhya (Kenya)G;G 55% A;G 37% A;A 8%
  • Mexican ancestry (Los Angeles)G;G 53% A;G 41% A;A 5%
  • Maasai (Kenya)G;G 49% A;G 43% A;A 8%
  • TuscanG;G 39% A;G 54% A;A 7%

Conditions, medicines and genes

Other IL23R SNPs

All IL23R SNPs

Notes

From SNPedia

Show notes, about 510 words

SNP rs1004819, in the IL23R gene, is associated with increased risk for Crohn's disease in both Jewish and non-Jewish populations. The same risk allele is also reported to increase the risk for developing ankylosing spondylitis, based on a large study of over 1,000 Caucasian patients. The odds ratio is 1.2 (p=8.8x10e-5).PMID 17952073, PMID 18037607 significant associations with rs1004819, rs7517847, and rs11209026. Having any CARD15 variant was associated with a significant risk for CD (P < 0.0001). Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort. rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population. Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. IL23R haplotypes provide a large population attributable risk for Crohn's disease. Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy. Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients. Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease. No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus. Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples. Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients. Genome-wide association studies--a summary for the clinical gastroenterologist. Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis. Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients. The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease. NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease. Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis. An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

Source and license

Adapted from rs1004819 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.