rs2066842
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2066842(C;T) |
| Make rs2066842(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 50710713 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066842 |
| dbSNP (classic) | rs2066842 |
| ClinGen | rs2066842 |
| ebi | rs2066842 |
| HLI | rs2066842 |
| Exac | rs2066842 |
| Gnomad | rs2066842 |
| Varsome | rs2066842 |
| LitVar | rs2066842 |
| Map | rs2066842 |
| PheGenI | rs2066842 |
| Biobank | rs2066842 |
| 1000 genomes | rs2066842 |
| hgdp | rs2066842 |
| ensembl | rs2066842 |
| geneview | rs2066842 |
| scholar | rs2066842 |
| rs2066842 | |
| pharmgkb | rs2066842 |
| gwascentral | rs2066842 |
| openSNP | rs2066842 |
| 23andMe | rs2066842 |
| SNPshot | rs2066842 |
| SNPdbe | rs2066842 |
| MSV3d | rs2066842 |
| GWAS Ctlg | rs2066842 |
| GMAF | 0.1249 |
| Max Magnitude | 0 |
| ? | (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 16600026
] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
[PMID 18633131] 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 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[PMID 20698950] NOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner.
[PMID 21304977] 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.
[PMID 23651603] 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.
| ClinVar | |
|---|---|
| Risk | rs2066842(A;A) rs2066842(T;T) |
| Alt | rs2066842(A;A) rs2066842(T;T) |
| Reference | Rs2066842(C;C) |
| Significance | Non-pathogenic |
| Disease | Blau syndrome Crohn disease not specified |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | Blau syndrome Crohn disease not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50744624C>T |
| CLNSRC | |
| CLNACC | RCV000278144.1, RCV000388922.1, RCV000455970.1, |
