ClinVar
|
Risk
|
rs139042529(A;A) rs139042529(G;G) rs139042529(T;T) |
Alt
|
rs139042529(A;A) rs139042529(G;G) rs139042529(T;T) |
Reference
|
Rs139042529(C;C) |
Significance |
Other |
Disease |
Long QT syndrome 1 Long QT syndrome not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Short QT syndrome Romano-Ward syndrome |
Variation | info |
---|
Gene |
KCNQ1 |
CLNDBN |
Long QT syndrome 1 Long QT syndrome not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Familial atrial fibrillation short QT syndrome Romano-Ward syndrome |
Reversed |
0 |
HGVS |
NC_000011.9:g.2591893C>A; NC_000011.9:g.2591893C>G; NC_000011.9:g.2591893C>T |
CLNSRC |
ClinVar |
CLNACC |
RCV000477871.1, RCV000046070.3, RCV000155132.1, RCV000247674.1, RCV000268526.1, RCV000323618.1, RCV000326765.1, RCV000378309.1, RCV000381337.1, |