Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773724817
rs773724817
A 0.710 CausalMutation CLINVAR The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 12566525

2003

dbSNP: rs773724817
rs773724817
A 0.710 CausalMutation CLINVAR These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype. 14714110

2004

dbSNP: rs773724817
rs773724817
0.710 GeneticVariation BEFREE These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype. 14714110

2004

dbSNP: rs773724817
rs773724817
A 0.710 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005

dbSNP: rs773724817
rs773724817
A 0.710 CausalMutation CLINVAR Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations. 19324319

2009

dbSNP: rs773724817
rs773724817
A 0.710 CausalMutation CLINVAR KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome. 22515331

2012