rs574673404
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs574673404(C;T) |
| Make rs574673404(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 89984524 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs574673404 |
| dbSNP (classic) | rs574673404 |
| ClinGen | rs574673404 |
| ebi | rs574673404 |
| HLI | rs574673404 |
| Exac | rs574673404 |
| Gnomad | rs574673404 |
| Varsome | rs574673404 |
| LitVar | rs574673404 |
| Map | rs574673404 |
| PheGenI | rs574673404 |
| Biobank | rs574673404 |
| 1000 genomes | rs574673404 |
| hgdp | rs574673404 |
| ensembl | rs574673404 |
| geneview | rs574673404 |
| scholar | rs574673404 |
| rs574673404 | |
| pharmgkb | rs574673404 |
| gwascentral | rs574673404 |
| openSNP | rs574673404 |
| 23andMe | rs574673404 |
| SNPshot | rs574673404 |
| SNPdbe | rs574673404 |
| MSV3d | rs574673404 |
| GWAS Ctlg | rs574673404 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs574673404(T;T) |
| Alt | rs574673404(T;T) |
| Reference | Rs574673404(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Microcephaly |
| Variation | info |
| Gene | NBN |
| CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency |
| Reversed | 0 |
| HGVS | NC_000008.10:g.90996752C>T |
| CLNSRC | |
| CLNACC | RCV000165888.3, RCV000470841.1, |
