| ClinVar
|
| Risk
|
rs199472776(G;G) rs199472776(T;T) |
| Alt
|
rs199472776(G;G) rs199472776(T;T) |
| Reference
|
Rs199472776(C;C) |
| Significance |
Other |
| Disease |
Long QT syndrome Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome 1 Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Short QT syndrome Familial atrial fibrillation |
| Variation | info |
|---|
| Gene |
KCNQ1 |
| CLNDBN |
Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome 1 Romano-Ward syndrome Jervell and Lange-Nielsen syndrome short QT syndrome Familial atrial fibrillation |
| Reversed |
0 |
| HGVS |
NC_000011.9:g.2608860C>T |
| CLNSRC |
UniProtKB (protein) |
| CLNACC |
RCV000045974.2, RCV000057571.3, RCV000148545.2, RCV000182181.3, RCV000203070.1, RCV000259588.1, RCV000265217.1, RCV000299301.1, RCV000356516.1, |