rs147205617
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs147205617(C;T) |
| Make rs147205617(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 123642563 |
| Gene | SCN3B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147205617 |
| dbSNP (classic) | rs147205617 |
| ClinGen | rs147205617 |
| ebi | rs147205617 |
| HLI | rs147205617 |
| Exac | rs147205617 |
| Gnomad | rs147205617 |
| Varsome | rs147205617 |
| LitVar | rs147205617 |
| Map | rs147205617 |
| PheGenI | rs147205617 |
| Biobank | rs147205617 |
| 1000 genomes | rs147205617 |
| hgdp | rs147205617 |
| ensembl | rs147205617 |
| geneview | rs147205617 |
| scholar | rs147205617 |
| rs147205617 | |
| pharmgkb | rs147205617 |
| gwascentral | rs147205617 |
| openSNP | rs147205617 |
| 23andMe | rs147205617 |
| SNPshot | rs147205617 |
| SNPdbe | rs147205617 |
| MSV3d | rs147205617 |
| GWAS Ctlg | rs147205617 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147205617(T;T) |
| Alt | rs147205617(T;T) |
| Reference | Rs147205617(C;C) |
| Significance | Pathogenic |
| Disease | not provided not specified Death in infancy Brugada syndrome 7 |
| Variation | info |
| Gene | SCN3B |
| CLNDBN | not provided not specified Death in infancy Brugada syndrome 7 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.123513271C>T |
| CLNSRC | |
| CLNACC | RCV000171068.3, RCV000185522.2, RCV000234992.1, RCV000467448.1, |
