{{Rsnum
|rsid=2066844
|Gene=NOD2
|Chromosome=16
|position=50712015
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.02342
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NOD2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 78.5 | 21.5 | 0.0
| HCB | 97.8 | 2.2 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 98.6 | 1.4 | 0.0
| ASW | 98.2 | 1.8 | 0.0
| CHB | 97.8 | 2.2 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 97.2 | 2.8 | 0.0
| MEX | 96.4 | 3.6 | 0.0
| MKK | 99.3 | 0.7 | 0.0
| TSI | 91.8 | 8.2 | 0.0
| HapMapRevision=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|OA=1
}} as being strongly associated with [[Crohn's disease]]

{{PMID|18756601|OA=1
}} No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease. 

{{omim
|desc=CROHN DISEASE, SUSCEPTIBILITY TO
|id=605956
|quiet=1
|rsnum=2066844
|variant=0003
}}

{{ neighbor
| rsid = 2066843
| distance = 727
}}

{{PMID Auto
|PMID=19435634
|Title=Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
}}

{{PMID Auto
|PMID=20412372
|Title=NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population
}}
{{PMID Auto
|PMID=20940596
|Title=NOD2/CARD15 Mutations Correlate With Severe Pouchitis After Ileal Pouch-Anal Anastomosis
}}
{{PMID Auto
|PMID=20959815
|Title=NOD2 Gene Polymorphism rs2066844 Associates With Need for Combined Liver-Intestine Transplantation in Children With Short-Gut Syndrome
}}

{{PMID Auto
|PMID=21734346
|Title=High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients
|OA=1
}}

{{PMID Auto
|PMID=22269043
|Title=Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population
|OA=1
}}

{{ClinVar
|rsid=2066844
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=50745926
|CHROM=16
|GMAF=0.0234
|dbSNPBuildID=94
|SSR=0
|SAO=1
|VP=0x050178000000150517110100
|GENEINFO=NOD2:64127
|GENE_NAME=NOD2
|GENE_ID=64127
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.50745926C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9766; 0.02342
|CLNACC=RCV000004957.1
|CLNDBN=Inflammatory bowel disease 1, susceptibility to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605956.0003
|COMMON=1
|Disease=Inflammatory bowel disease 1
}}

{{PMID Auto
|PMID=15955786
|Title=Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
|OA=1
}}

{{PMID Auto
|PMID=16380915
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=16519819
|Title=Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
|OA=1
}}

{{PMID Auto
|PMID=17327408
|Title=Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
|OA=1
}}

{{PMID Auto
|PMID=17684544
|Title=Systematic association mapping identifies NELL1 as a novel IBD disease gene.
|OA=1
}}

{{PMID Auto
|PMID=17708757
|Title=Genome bioinformatic analysis of nonsynonymous SNPs.
|OA=1
}}

{{PMID Auto
|PMID=17786191
|Title=rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
|OA=1
}}

{{PMID Auto
|PMID=18070336
|Title=CD209 in inflammatory bowel disease: a case-control study in the Spanish population.
|OA=1
}}

{{PMID Auto
|PMID=18382655
|Title=Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.
|OA=1
}}

{{PMID Auto
|PMID=18576390
|Title=Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
|OA=1
}}

{{PMID Auto
|PMID=18633131
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18650832
|Title=MAST3: a novel IBD risk factor that modulates TLR4 signaling.
|OA=1
}}

{{PMID Auto
|PMID=18698678
|Title=Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
|OA=1
}}

{{PMID Auto
|PMID=18715515
|Title=Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
|OA=1
}}

{{PMID Auto
|PMID=19147066
|Title=Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.
|OA=1
}}

{{PMID Auto
|PMID=19185283
|Title=Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease.
|OA=1
}}

{{PMID Auto
|PMID=19570052
|Title=NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.
}}

{{PMID Auto
|PMID=19843337
|Title=Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=20066736
|Title=Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.
|OA=1
}}

{{PMID Auto
|PMID=20082483
|Title=NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.
|OA=1
}}

{{PMID Auto
|PMID=20371648
|Title=Penetrance of NOD2/CARD15 genetic variants in the general population.
|OA=1
}}

{{PMID Auto
|PMID=20646321
|Title=Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=21304977
|Title=An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
|OA=1
}}

{{PMID Auto
|PMID=21730793
|Title=Influence of Crohn's disease risk alleles and smoking on disease location.
|OA=1
}}

{{PMID Auto
|PMID=21745515
|Title=Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.
}}

{{PMID Auto
|PMID=22563200
|Title=Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=21745302
|Title=NOD2 gene variants are a risk factor for culture-positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis.
}}

{{GET Evidence
|gene=NOD2
|aa_change=Arg702Trp
|aa_change_short=R702W
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs2066844
|overall_frequency_n=360
|overall_frequency_d=10752
|overall_frequency=0.0334821
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.97
|genetests_testable=Y
|nblosum100=7
|max_or_disease_name=Crohn Disease
|max_or_case_pos=98
|max_or_case_neg=808
|max_or_control_pos=9
|max_or_control_neg=197
|max_or_or=2.655
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.
}}

{{PMID Auto
|PMID=23651603
|Title=P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}