rs199472910, KCNH2

N. diseases: 5
Disease: Long Qt Syndrome 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.700 GeneticVariation CLINVAR Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 27816319 2017
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.700 GeneticVariation CLINVAR Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 27041096 2016
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.700 GeneticVariation CLINVAR Congenital long QT syndrome with compound mutations in the KCNH2 gene. 24057343 2014
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.700 GeneticVariation CLINVAR Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 19843919 2009