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rs2066843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 2 4.09x higher risk for Crohn's disease
Make rs2066843(C;C)
Make rs2066843(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50711288
GeneNOD2
is asnp
is mentioned by
dbSNPrs2066843
ebirs2066843
HLIrs2066843
Exacrs2066843
Varsomers2066843
Maprs2066843
PheGenIrs2066843
hapmaprs2066843
1000 genomesrs2066843
hgdprs2066843
ensemblrs2066843
gopubmedrs2066843
geneviewrs2066843
scholarrs2066843
googlers2066843
pharmgkbrs2066843
gwascentralrs2066843
openSNPrs2066843
23andMers2066843
23andMe allrs2066843
SNP Nexus

SNPshotrs2066843
SNPdbers2066843
MSV3drs2066843
GWAS Ctlgrs2066843
GMAF0.1295
Max Magnitude2
? (C;C) (C;T) (T;T) 28
Rs2066843
PubMed [PMID 17068223, 15571588]
Affy Probeset SNP_A-1908244
Affy Orientation same
On GW 5.0 1
Alleles A/B C/T
Ancestral C
Population
Allele T
Case Freq. 0.38
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All 4.09
Disease Crohn's disease (CD)


Neighborrs2066844
Distance727

rs2066843 increases susceptibility to Crohn's disease 4.09 times for carriers of the T allele [PMID 17068223, PMID 15571588]



[PMID 21209938OA-icon.png] The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants


[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.


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


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


[PMID 21745515] Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.


GET Evidence
rs2066843
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.201841
summary



[PMID 23085276] NOD2 gene mutations associate weakly with ulcerative colitis but not with Crohn's disease in Indian patients with inflammatory bowel disease.