| Geno
|
Mag
|
Summary
|
| (T;T)
|
0
|
common in clinvar
|
[PMID 17534376
] Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
[PMID 18368697] SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
| ClinVar
|
| Risk
|
rs1805126(C;C) |
| Alt
|
rs1805126(C;C) |
| Reference
|
Rs1805126(T;T) |
| Significance |
Probable-non-pathogenic |
| Disease |
not specified Cardiovascular phenotype Brugada syndrome Romano-Ward syndrome Long QT syndrome Dilated Cardiomyopathy Paroxysmal familial ventricular fibrillation Sick sinus syndrome Progressive familial heart block |
| Variation | info |
|---|
| Gene |
SCN5A |
| CLNDBN |
not specified Cardiovascular phenotype Brugada syndrome Romano-Ward syndrome Long QT syndrome Dilated Cardiomyopathy, Dominant Paroxysmal familial ventricular fibrillation Sick sinus syndrome Progressive familial heart block |
| Reversed |
1 |
| HGVS |
NC_000003.11:g.38592406A>G |
| CLNSRC |
ClinVar GeneDx |
| CLNACC |
RCV000041627.5, RCV000243623.1, RCV000286827.1, RCV000302171.1, RCV000335948.1, RCV000341786.1, RCV000347752.1, RCV000371957.1, RCV000390614.1, |