rs2066847 is one of several SNPs referring to a one base insertion into a run of C's within exon 11 of the NOD2 gene; the other SNPs are rs5743293 and rs112436597.

The two initial reports linking this insertion variant with Crohn's disease are [PMID 11385576] and [PMID 11385577]. In OMIM, this insertion is allelic variant #605956.0001

[PMID 20940596] NOD2/CARD15 Mutations Correlate With Severe Pouchitis After Ileal Pouch-Anal Anastomosis

[PMID 20959815] NOD2 Gene Polymorphism rs2066844 Associates With Need for Combined Liver-Intestine Transplantation in Children With Short-Gut Syndrome

[PMID 21734346] High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients

[PMID 22649567] Patients with Inflammatory Bowel Disease Exhibit Dysregulated Responses to Microbial DNA

[PMID 22719818] Inflammatory Bowel Diseases Phenotype, C. difficile and NOD2 Genotype Are Associated with Shifts in Human Ileum Associated Microbial Composition

[PMID 16380915] Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.

[PMID 16859562] Do host genetic traits in the bacterial sensing system play a role in the development of Chlamydia trachomatis-associated tubal pathology in subfertile women?

[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

[PMID 17684544] Systematic association mapping identifies NELL1 as a novel IBD disease gene.

[PMID 17786191] rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.

[PMID 18070336] CD209 in inflammatory bowel disease: a case-control study in the Spanish population.

[PMID 18382655] Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.

[PMID 18633131] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.

[PMID 18698678] Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

[PMID 19147066] Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.

[PMID 19185283] Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease.

[PMID 19843337] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.

[PMID 20047977] Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium.

[PMID 20066736] Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.

[PMID 20082483] NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.

[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

[PMID 21730793] Influence of Crohn's disease risk alleles and smoking on disease location.

[PMID 23651603] P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population

[PMID 21745302] NOD2 gene variants are a risk factor for culture-positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis.

[PMID 23725363] Predicting complicated Crohn's disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort.


Parent Gene: NOD2

Importance: 3
Less common allele: C = 1%
More common allele: None = None
My Genotype: Log In
Risk Allele: T, C

Disease/Trait: Crohn's Disease

rs2066847 is associated with Crohn's Disease (R) . It is reported to increased association with Crohn's disease. No specific risk allele was identified in the study.

Disease/Trait: Crohn's Disease

The C allele of rs2066847 is reported to be associated with Crohn's Disease (R) . Your genotype was not identified for this SNP so we are unable to comment on your association with Crohn's disease.