rs3135500
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3135500(A;A) |
| Make rs3135500(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 50732975 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3135500 |
| dbSNP (classic) | rs3135500 |
| ClinGen | rs3135500 |
| ebi | rs3135500 |
| HLI | rs3135500 |
| Exac | rs3135500 |
| Gnomad | rs3135500 |
| Varsome | rs3135500 |
| LitVar | rs3135500 |
| Map | rs3135500 |
| PheGenI | rs3135500 |
| Biobank | rs3135500 |
| 1000 genomes | rs3135500 |
| hgdp | rs3135500 |
| ensembl | rs3135500 |
| geneview | rs3135500 |
| scholar | rs3135500 |
| rs3135500 | |
| pharmgkb | rs3135500 |
| gwascentral | rs3135500 |
| openSNP | rs3135500 |
| 23andMe | rs3135500 |
| SNPshot | rs3135500 |
| SNPdbe | rs3135500 |
| MSV3d | rs3135500 |
| GWAS Ctlg | rs3135500 |
| GMAF | 0.3765 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24297055
] NOD2 Expression is Regulated by microRNAs in Colonic Epithelial HCT116 Cells
[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 18576390
] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
[PMID 22139875] NOD2 sequencing in Iranian children with Crohn's disease.
[PMID 22563200
] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.
[PMID 22957492] Pathway analysis of a genome-wide association study of ileal Crohn's disease.
[PMID 27775822] Polymorphisms in the interleukin (IL)-1 gene cluster influence systemic inflammation in patients at risk for acute-on-chronic liver failure.
| ClinVar | |
|---|---|
| Risk | rs3135500(A;A) |
| Alt | rs3135500(A;A) |
| Reference | Rs3135500(G;G) |
| Significance | Non-pathogenic |
| Disease | Blau syndrome Crohn disease |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | Blau syndrome Crohn disease |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50766886G>A |
| CLNSRC | |
| CLNACC | RCV000272415.1, RCV000327435.1, |
