rs752824646
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs752824646(C;T) |
| Make rs752824646(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 38609881 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752824646 |
| dbSNP (classic) | rs752824646 |
| ClinGen | rs752824646 |
| ebi | rs752824646 |
| HLI | rs752824646 |
| Exac | rs752824646 |
| Gnomad | rs752824646 |
| Varsome | rs752824646 |
| LitVar | rs752824646 |
| Map | rs752824646 |
| PheGenI | rs752824646 |
| Biobank | rs752824646 |
| 1000 genomes | rs752824646 |
| hgdp | rs752824646 |
| ensembl | rs752824646 |
| geneview | rs752824646 |
| scholar | rs752824646 |
| rs752824646 | |
| pharmgkb | rs752824646 |
| gwascentral | rs752824646 |
| openSNP | rs752824646 |
| 23andMe | rs752824646 |
| SNPshot | rs752824646 |
| SNPdbe | rs752824646 |
| MSV3d | rs752824646 |
| GWAS Ctlg | rs752824646 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752824646(T;T) |
| Alt | rs752824646(T;T) |
| Reference | Rs752824646(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Progressive familial heart block Romano-Ward syndrome Paroxysmal familial ventricular fibrillation Sick sinus syndrome Brugada syndrome Long QT syndrome Dilated Cardiomyopathy |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | not specified Progressive familial heart block Romano-Ward syndrome Paroxysmal familial ventricular fibrillation Sick sinus syndrome Brugada syndrome Long QT syndrome Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000003.11:g.38651372C>T |
| CLNSRC | |
| CLNACC | RCV000182947.2, RCV000279922.1, RCV000294829.1, RCV000319650.1, RCV000334721.1, RCV000349715.1, RCV000374434.1, RCV000389273.1, |
