rs199472910, KCNH2

N. diseases: 5
Disease: Long QT Syndrome 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.010 GeneticVariation BEFREE KCNH2 p.His492Tyr variant presented Romano-Ward syndrome in the presence of another mutation and heterozygous carriers had mild phenotypes while even heterozygous carriers should be cared for not to encounter secondary factors because incidental factors could manifest "latent" form of p.His492Tyr heterozygous carriers. 27816319 2017