rs2066844
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 2 | Significance is unclear, but possibly, ~2x higher risk for Crohn's disease |
| (T;T) | 3.1 | Significance unclear; possibly higher risk for Crohn's disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 50712015 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066844 |
| dbSNP (classic) | rs2066844 |
| ClinGen | rs2066844 |
| ebi | rs2066844 |
| HLI | rs2066844 |
| Exac | rs2066844 |
| Gnomad | rs2066844 |
| Varsome | rs2066844 |
| LitVar | rs2066844 |
| Map | rs2066844 |
| PheGenI | rs2066844 |
| Biobank | rs2066844 |
| 1000 genomes | rs2066844 |
| hgdp | rs2066844 |
| ensembl | rs2066844 |
| geneview | rs2066844 |
| scholar | rs2066844 |
| rs2066844 | |
| pharmgkb | rs2066844 |
| gwascentral | rs2066844 |
| openSNP | rs2066844 |
| 23andMe | rs2066844 |
| SNPshot | rs2066844 |
| SNPdbe | rs2066844 |
| MSV3d | rs2066844 |
| GWAS Ctlg | rs2066844 |
| GMAF | 0.02342 |
| Max Magnitude | 3.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2066844 is a SNP in the NOD2 gene; the SNP is also known as R702W or Arg702Trp, with the (C) allele encoding the Arg (R) and the (T) allele encoding the Trp (W).
The two initial reports linking the minor(T) allele as strongly associated with Crohn's disease are [PMID 11385576] and [PMID 11385577].
rs2066844 is mentioned in [PMID 17554300
] as being strongly associated with Crohn's disease
[PMID 18756601] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.
[PMID 19435634] Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
[PMID 20412372] NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population
[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 22269043] Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population
| ClinVar | |
|---|---|
| Risk | Rs2066844(T;T) |
| Alt | Rs2066844(T;T) |
| Reference | Rs2066844(C;C) |
| Significance | Other |
| Disease | INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE) not specified Crohn disease Blau syndrome YAO SYNDROME |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO not specified Crohn disease Blau syndrome YAO SYNDROME, SUSCEPTIBILITY TO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50745926C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004957.4, RCV000203217.1, RCV000273268.1, RCV000365422.1, RCV000416493.1, |
[PMID 15955786] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
[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 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[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 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.
[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 18576390] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
[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 18650832] MAST3: a novel IBD risk factor that modulates TLR4 signaling.
[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 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[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 19570052] NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.
[PMID 19843337] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.
[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 20371648] Penetrance of NOD2/CARD15 genetic variants in the general population.
[PMID 20646321] Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.
[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 21745515] Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.
[PMID 22563200] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.
[PMID 21745302] NOD2 gene variants are a risk factor for culture-positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis.
[PMID 23651603] P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population
[PMID 26107754] Association of SNPs with the efficacy and safety of immunosuppressant therapy after heart transplantation
[PMID 29228965] Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.
[PMID 30746160] The Association between Nod2 R702w Polymorphism and Susceptibility to Colorectal Cancer in Romanian Patients.
[PMID 31485165] Genetic variations of NOD2 and MD2 genes in hepatitis B virus infection.
[PMID 31651650] Genetic polymorphisms present in IL10, IL23R, NOD2, and ATG16L1 associated with susceptibility to inflammatory bowel disease in Mexican population.
[PMID 31714311] Clinical and Genetic Factors Impact Time to Surgical Recurrence After Ileocolectomy for Crohn Disease.
[PMID 32476786] Genetic association analysis of CLEC5A and CLEC7A gene single-nucleotide polymorphisms and Crohn's disease.
