Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472902
rs199472902
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 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
dbSNP: rs199472902
rs199472902
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 GeneticVariation CLINVAR Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 10862094

2000