rs3135499
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs3135499(A;C) |
| Make rs3135499(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 50732216 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3135499 |
| dbSNP (classic) | rs3135499 |
| ClinGen | rs3135499 |
| ebi | rs3135499 |
| HLI | rs3135499 |
| Exac | rs3135499 |
| Gnomad | rs3135499 |
| Varsome | rs3135499 |
| LitVar | rs3135499 |
| Map | rs3135499 |
| PheGenI | rs3135499 |
| Biobank | rs3135499 |
| 1000 genomes | rs3135499 |
| hgdp | rs3135499 |
| ensembl | rs3135499 |
| geneview | rs3135499 |
| scholar | rs3135499 |
| rs3135499 | |
| pharmgkb | rs3135499 |
| gwascentral | rs3135499 |
| openSNP | rs3135499 |
| 23andMe | rs3135499 |
| SNPshot | rs3135499 |
| SNPdbe | rs3135499 |
| MSV3d | rs3135499 |
| GWAS Ctlg | rs3135499 |
| GMAF | 0.3857 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 20595247] Polymorphisms of innate pattern recognition receptors, response to interferon-beta and development of neutralizing antibodies in multiple sclerosis patients
[PMID 22212192] Polymorphisms of NOD2 and the risk of tuberculosis: a validation study in the Chinese population
[PMID 16600026
] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 23100559
] Association of a NOD2 gene polymorphism and Th17 lymphocytes with presumed ocular toxoplasmosis
| ClinVar | |
|---|---|
| Risk | rs3135499(C;C) |
| Alt | rs3135499(C;C) |
| Reference | Rs3135499(A;A) |
| Significance | Non-pathogenic |
| Disease | Blau syndrome Crohn disease |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | Blau syndrome Crohn disease |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50766127A>C |
| CLNSRC | |
| CLNACC | RCV000259622.1, RCV000333370.1, |
[PMID 30950247
] The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population.
