Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728391
rs794728391
KCNH2
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
KCNH2
A 0.710 GeneticVariation CLINVAR