Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472983
rs199472983
KCNH2
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472983
rs199472983
KCNH2
G 0.700 GeneticVariation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012
dbSNP: rs199472983
rs199472983
KCNH2
G 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs199472983
rs199472983
KCNH2
G 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009