| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Long Qt Syndrome 2
|
0.800 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 | |||||
Long Qt Syndrome 2
|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
Long Qt Syndrome 2
|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
Long Qt Syndrome 2
|
0.800 | GeneticVariation | UNIPROT | HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). | 21810866 | 2011 | |||||
Long Qt Syndrome 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Long Qt Syndrome 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Long QT Syndrome
|
0.720 | CausalMutation | CLINVAR | M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells. | 27803431 | 2016 | |||||
Long QT Syndrome
|
0.720 | 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 | |||||
Long QT Syndrome
|
0.720 | GeneticVariation | BEFREE | Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome. | 20931094 | 2010 | |||||
Long QT Syndrome
|
0.720 | CausalMutation | CLINVAR | Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. | 19490267 | 2009 | |||||
Long QT Syndrome
|
0.720 | CausalMutation | CLINVAR | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. | 15176425 | 2004 | |||||
Long QT Syndrome
|
0.720 | GeneticVariation | BEFREE | Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. | 10735633 | 2000 | |||||
Trichohepatoenteric Syndrome
|
0.010 | GeneticVariation | BEFREE | The syndrome was associated with a novel KCNH2 missense mutation, G572R, causing the substitution of a glycine residue at position 572, at the end of the S5 transmembrane segment of the HERG K(+)-channel, with an arginine residue. | 10735633 | 2000 |