| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. | 29431731 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. | 28349240 | 2017 |
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|
A | 0.700 | 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 | 0.700 | CausalMutation | CLINVAR | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. | 23303164 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. | 23098067 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. | 18441445 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. | 16432067 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. | 10973849 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome. | 11009462 | 2000 |