| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. | 24606995 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. | 22727609 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. | 23130128 | 2012 |
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T | 0.700 | GeneticVariation | 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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T | 0.700 | GeneticVariation | 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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|
T | 0.700 | GeneticVariation | CLINVAR | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. | 19716085 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. | 19590188 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | 15840476 | 2005 |
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T | 0.700 | GeneticVariation | CLINVAR | Mechanisms of I(Ks) suppression in LQT1 mutants. | 11087258 | 2000 |
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T | 0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. | 10973849 | 2000 |
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T | 0.700 | GeneticVariation | CLINVAR | Low penetrance in the long-QT syndrome: clinical impact. | 9927399 | 1999 |