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rs2066844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 3x higher risk for Crohn's disease
(T;T) 4 ~35x higher risk for Crohn's disease
ReferenceGRCh38 38.1/141
Chromosome16
Position50712015
GeneNOD2
is asnp
is mentioned by
dbSNPrs2066844
ClinGenrs2066844
ebirs2066844
HLIrs2066844
Exacrs2066844
Varsomers2066844
Maprs2066844
PheGenIrs2066844
hapmaprs2066844
1000 genomesrs2066844
hgdprs2066844
ensemblrs2066844
gopubmedrs2066844
geneviewrs2066844
scholarrs2066844
googlers2066844
pharmgkbrs2066844
gwascentralrs2066844
openSNPrs2066844
23andMers2066844
23andMe allrs2066844
SNP Nexus

SNPshotrs2066844
SNPdbers2066844
MSV3drs2066844
GWAS Ctlgrs2066844
GMAF0.02342
Max Magnitude4
? (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 17554300OA-icon.png] as being strongly associated with Crohn's disease

[PMID 18756601OA-icon.png] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.

OMIM605956
DescCROHN DISEASE, SUSCEPTIBILITY TO
Variant0003
Relatedalso
Neighborrs2066843
Distance727
[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 21734346OA-icon.png] 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 22269043OA-icon.png] 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 15955786OA-icon.png] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.


[PMID 16380915OA-icon.png] 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 16519819OA-icon.png] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.


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


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


[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.


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


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


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


[PMID 18576390OA-icon.png] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.


[PMID 18633131OA-icon.png] 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 18650832OA-icon.png] MAST3: a novel IBD risk factor that modulates TLR4 signaling.


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


[PMID 18715515OA-icon.png] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.


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


[PMID 19185283OA-icon.png] 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 19843337OA-icon.png] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.


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


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


[PMID 20371648OA-icon.png] Penetrance of NOD2/CARD15 genetic variants in the general population.


[PMID 20646321OA-icon.png] Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.


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


[PMID 21730793OA-icon.png] 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 22563200OA-icon.png] 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.


GET Evidence
NOD2-R702W
aa_change Arg702Trp
aa_change_short R702W
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.0334821
summary 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 23651603OA-icon.png] 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