Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728391
rs794728391
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0023976
Disease:
Long QT Syndrome 		0.710 GeneticVariation BEFREE In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. 18272172 2008
dbSNP: rs794728391
rs794728391
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 GeneticVariation CLINVAR