Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36210422
rs36210422
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 SusceptibilityMutation CLINVAR Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. 22052944

2012
dbSNP: rs36210422
rs36210422
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 SusceptibilityMutation CLINVAR High prevalence of four long QT syndrome founder mutations in the Finnish population. 19160088

2009
dbSNP: rs36210422
rs36210422
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 SusceptibilityMutation CLINVAR Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients. 16754261

2006