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rs2066847

From SNPedia

Orientationplus
Stabilizedplus
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
(D;D) 0
(G;G) 0 common on affy axiom data
ReferenceGRCh38 38.1/141
Chromosome16
Position50729867
GeneNOD2
is asnp
is mentioned by
dbSNPrs2066847
ebirs2066847
HLIrs2066847
Exacrs2066847
Varsomers2066847
Maprs2066847
PheGenIrs2066847
hapmaprs2066847
1000 genomesrs2066847
hgdprs2066847
ensemblrs2066847
gopubmedrs2066847
geneviewrs2066847
scholarrs2066847
googlers2066847
pharmgkbrs2066847
gwascentralrs2066847
openSNPrs2066847
23andMers2066847
23andMe allrs2066847
SNP Nexus

SNPshotrs2066847
SNPdbers2066847
MSV3drs2066847
GWAS Ctlgrs2066847
GMAF0.007805
Max Magnitude4
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

Neighborrs5743293
Distance3
GWAS snp
PMID [PMID 18587394OA-icon.png]
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 20570966OA-icon.png]
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 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 22649567OA-icon.png] Patients with Inflammatory Bowel Disease Exhibit Dysregulated Responses to Microbial DNA


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


[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 16859562OA-icon.png] 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 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 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 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 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 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 19843337OA-icon.png] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.


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


[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 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.

GWAS snp
PMID [PMID 23128233OA-icon.png]
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 23651603OA-icon.png] 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)
Variation info
Gene NOD2
CLNDBN INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO
Reversed 0
HGVS NC_000016.9:g.50763779dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023505.3,