Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Molecular pathogenesis of long QT syndrome type 2. | 27761161 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. | 25974115 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | Gain-of-function KCNH2 mutations in patients with Brugada syndrome. | 24400717 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | A novel mutation in the KCNH2 gene associated with short QT syndrome. | 21130771 | 2011 |
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A | 0.700 | CausalMutation | 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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A | 0.700 | CausalMutation | CLINVAR | Long QT Syndrome. | 18835466 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. | 17210839 | 2007 |
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A | 0.700 | CausalMutation | CLINVAR | Short QT syndrome: clinical findings and diagnostic-therapeutic implications. | 16926178 | 2006 |
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A | 0.700 | CausalMutation | CLINVAR | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. | 16414944 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. | 15828882 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | 15840476 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Short QT Syndrome: a familial cause of sudden death. | 12925462 | 2003 |
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A | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. | 11136691 | 2001 |
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A | 0.700 | CausalMutation | CLINVAR | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. | 10220144 | 1999 |