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rs5743293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in complete genomics
Make rs5743293(-;C)
Make rs5743293(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position50729870
GeneNOD2
is asnp
is mentioned by
dbSNPrs5743293
ebirs5743293
HLIrs5743293
Exacrs5743293
Varsomers5743293
Maprs5743293
PheGenIrs5743293
hapmaprs5743293
1000 genomesrs5743293
hgdprs5743293
ensemblrs5743293
gopubmedrs5743293
geneviewrs5743293
scholarrs5743293
googlers5743293
pharmgkbrs5743293
gwascentralrs5743293
openSNPrs5743293
23andMers5743293
23andMe allrs5743293
SNP Nexus

SNPshotrs5743293
SNPdbers5743293
MSV3drs5743293
GWAS Ctlgrs5743293
GMAF0.007805
Max Magnitude0
also known as rs2066847
Neighborrs2066847
Distance3
[PMID 20537165OA-icon.png] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease

[PMID 20412372] NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population


[PMID 22269043OA-icon.png] Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population


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


[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 19570052] NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.


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


[PMID 22563200OA-icon.png] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.


GET Evidence
NOD2-L1007Shift
aa_change Leu1007Shift
aa_change_short L1007Shift
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary Three Nod2 variants, G908R, R702W, and a frameshift deletion mutation at L1007 (L1007fsinsC), have been linked to CD development. Although the precise mechanisms by which Nod2 promotes disease remain unclear, CD-associated human Nod2 variants exhibit reduced capacity to activate NF-κB following MDP stimulation, suggesting that the loss of Nod2 activation promotes CD.