rs2066847
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in complete genomics |
| (-;C) | 3 | 3x higher risk of Crohn's disease |
| (C;C) | 4 | 35x higher risk for Crohn's disease |
| (G;G) | 0 | common on affy axiom data |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 50729867 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066847 |
| dbSNP (classic) | rs2066847 |
| ClinGen | rs2066847 |
| ebi | rs2066847 |
| HLI | rs2066847 |
| Exac | rs2066847 |
| Gnomad | rs2066847 |
| Varsome | rs2066847 |
| LitVar | rs2066847 |
| Map | rs2066847 |
| PheGenI | rs2066847 |
| Biobank | rs2066847 |
| 1000 genomes | rs2066847 |
| hgdp | rs2066847 |
| ensembl | rs2066847 |
| geneview | rs2066847 |
| scholar | rs2066847 |
| rs2066847 | |
| pharmgkb | rs2066847 |
| gwascentral | rs2066847 |
| openSNP | rs2066847 |
| 23andMe | rs2066847 |
| SNPshot | rs2066847 |
| SNPdbe | rs2066847 |
| MSV3d | rs2066847 |
| GWAS Ctlg | rs2066847 |
| Merged from | Rs5743293 |
| GMAF | 0.007805 |
| Max Magnitude | 4 |
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
| GWAS snp | |
|---|---|
| PMID | [PMID 18587394 ]
|
| Trait | Crohn's disease |
| Title | Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease |
| Risk Allele | C |
| P-val | 3E-24 |
| Odds Ratio | 3.99 [NR] |
| GWAS snp | |
|---|---|
| PMID | [PMID 20570966]
|
| Trait | Crohn's disease |
| Title | Fucosyltransferase 2(FUT2) Non-Secretor Status is associated with Crohn's Disease |
| Risk Allele | |
| P-val | 2E-15 |
| Odds Ratio | 1.62 [1.42-1.86] |
[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.
| GWAS snp | |
|---|---|
| PMID | [PMID 23128233]
|
| Trait | Crohn's disease |
| Title | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. |
| Risk Allele | T |
| P-val | 6E-209 |
| Odds Ratio | 3.10 [1.497-1.618] |
[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.
| ClinVar | |
|---|---|
| Risk | Rs2066847(C;C) |
| Alt | Rs2066847(C;C) |
| Reference | Rs2066847(-;-) |
| Significance | Other |
| Disease | INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE) Crohn disease Blau syndrome YAO SYNDROME |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO Crohn disease Blau syndrome YAO SYNDROME, SUSCEPTIBILITY TO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50763781dupC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004955.5, RCV000334899.1, RCV000389442.1, RCV000416485.1, |
[PMID 29446656] Crohn's Disease Candidate Gene Alleles Predict Time to Progression from Inflammatory B1 to Stricturing B2, or Penetrating B3 Phenotype.
[PMID 29228965] Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.
[PMID 32476786] Genetic association analysis of CLEC5A and CLEC7A gene single-nucleotide polymorphisms and Crohn's disease.
