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rs2066842

From SNPedia

Orientationplus
Stabilizedplus
Make rs2066842(C;C)
Make rs2066842(C;T)
Make rs2066842(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50710713
GeneNOD2
is asnp
is mentioned by
dbSNPrs2066842
ebirs2066842
HLIrs2066842
Exacrs2066842
Varsomers2066842
Maprs2066842
PheGenIrs2066842
hapmaprs2066842
1000 genomesrs2066842
hgdprs2066842
ensemblrs2066842
gopubmedrs2066842
geneviewrs2066842
scholarrs2066842
googlers2066842
pharmgkbrs2066842
gwascentralrs2066842
openSNPrs2066842
23andMers2066842
23andMe allrs2066842
SNP Nexus

SNPshotrs2066842
SNPdbers2066842
MSV3drs2066842
GWAS Ctlgrs2066842
GMAF0.1249
Max Magnitude
? (C;C) (C;T) (T;T) 28

[PMID 20595247] Polymorphisms of innate pattern recognition receptors, response to interferon-beta and development of neutralizing antibodies in multiple sclerosis patients


[PMID 16008671] Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults.


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


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


[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 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 20698950OA-icon.png] NOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner.


[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
NOD2-P268S
aa_change Pro268Ser
aa_change_short P268S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.197378
summary



[PMID 23651603OA-icon.png] P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population


[PMID 22957492] Pathway analysis of a genome-wide association study of ileal Crohn's disease.


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


[PMID 27128681] Genetic Variation in Autophagy-Related Genes Influences the Risk and Phenotype of Buruli Ulcer.


[PMID 27207565] Toxoplasma gondii exposure may modulate the influence of TLR2 genetic variation on bipolar disorder: a gene-environment interaction study.