{{Rsnum
|rsid=5743293
|Gene=NOD2
|Chromosome=16
|position=50729870
|Orientation=plus
|GMAF=0.007805
|Gene_s=NOD2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
}}also known as [[rs2066847]]
{{ neighbor
| rsid = 2066847
| distance = 3
}}

{{PMID Auto
|PMID=20537165
|Title=The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease
|OA=1
}}
{{PMID Auto
|PMID=20412372
|Title=NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population
}}

{{PMID Auto
|PMID=22269043
|Title=Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population
|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=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=19570052
|Title=NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.
}}

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

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

{{GET Evidence
|gene=NOD2
|aa_change=Leu1007Shift
|aa_change_short=L1007Shift
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5743293
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=3
|qualityscore_familial=4
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=4
|autoscore=3
|webscore=N
|summary_short=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.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}