| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. | 26669661 | 2016 |
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|
A | 0.710 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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A | 0.710 | CausalMutation | CLINVAR | Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. | 22456477 | 2012 |
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|
A | 0.710 | CausalMutation | CLINVAR | High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation. | 23092362 | 2012 |
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|
A | 0.710 | CausalMutation | CLINVAR | The present study was designed to determine the G325R ion channel phenotype and its association with the clinical LQTS presentation. | 23000022 | 2012 |
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|
A | 0.710 | CausalMutation | CLINVAR | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. | 22949429 | 2012 |
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A | 0.710 | CausalMutation | CLINVAR | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. | 23158531 | 2012 |
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|
0.710 | GeneticVariation | BEFREE | The present study was designed to determine the G325R ion channel phenotype and its association with the clinical LQTS presentation. | 23000022 | 2012 |
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|
A | 0.710 | CausalMutation | CLINVAR | Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? | 21118729 | 2011 |
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A | 0.710 | CausalMutation | CLINVAR | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | 19841300 | 2009 |