Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77331749
rs77331749
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: rs77331749
rs77331749
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 GeneticVariation CLINVAR Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 17060380

2006
dbSNP: rs77331749
rs77331749
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs77331749
rs77331749
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR