rs146848219
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs146848219(C;T) |
| Make rs146848219(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 38604004 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146848219 |
| dbSNP (classic) | rs146848219 |
| ClinGen | rs146848219 |
| ebi | rs146848219 |
| HLI | rs146848219 |
| Exac | rs146848219 |
| Gnomad | rs146848219 |
| Varsome | rs146848219 |
| LitVar | rs146848219 |
| Map | rs146848219 |
| PheGenI | rs146848219 |
| Biobank | rs146848219 |
| 1000 genomes | rs146848219 |
| hgdp | rs146848219 |
| ensembl | rs146848219 |
| geneview | rs146848219 |
| scholar | rs146848219 |
| rs146848219 | |
| pharmgkb | rs146848219 |
| gwascentral | rs146848219 |
| openSNP | rs146848219 |
| 23andMe | rs146848219 |
| SNPshot | rs146848219 |
| SNPdbe | rs146848219 |
| MSV3d | rs146848219 |
| GWAS Ctlg | rs146848219 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146848219(T;T) |
| Alt | rs146848219(T;T) |
| Reference | Rs146848219(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Brugada syndrome not specified Paroxysmal familial ventricular fibrillation Romano-Ward syndrome Progressive familial heart block Dilated Cardiomyopathy Long QT syndrome Sick sinus syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome not specified Paroxysmal familial ventricular fibrillation Romano-Ward syndrome Progressive familial heart block Dilated Cardiomyopathy, Dominant Long QT syndrome Sick sinus syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.38645495C>T |
| CLNSRC | |
| CLNACC | RCV000157479.3, RCV000182980.3, RCV000269424.1, RCV000272892.1, RCV000277355.1, RCV000308105.1, RCV000365101.1, RCV000388106.1, |
