| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. | 23392653 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications. | 22708720 | 2013 |
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T | 0.700 | 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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T | 0.700 | CausalMutation | CLINVAR | Fetal heart rate predictors of long QT syndrome. | 23124029 | 2012 |
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T | 0.700 | 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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T | 0.700 | CausalMutation | CLINVAR | Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. | 21350584 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | 19841300 | 2009 |
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T | 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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T | 0.700 | CausalMutation | CLINVAR | Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. | 15234419 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. | 12402336 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1. | 11021476 | 2000 |