Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation 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: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Identification of the gene causing long QT syndrome in an Israeli family. 19070294

2008
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142

2008
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 18441445

2008
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred. 10560244

1999
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837

1998
dbSNP: rs199472944
rs199472944
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139

1997