Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9333649
rs9333649
T 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

dbSNP: rs9333649
rs9333649
T 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

dbSNP: rs9333649
rs9333649
0.720 GeneticVariation BEFREE Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome. 20931094

2010

dbSNP: rs9333649
rs9333649
T 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

dbSNP: rs9333649
rs9333649
T 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

dbSNP: rs9333649
rs9333649
0.720 GeneticVariation BEFREE Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633

2000