Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 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: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 CausalMutation CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142

2008
dbSNP: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 CausalMutation CLINVAR Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 18441445

2008
dbSNP: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 CausalMutation 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
dbSNP: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 CausalMutation CLINVAR Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 10483966

1999
dbSNP: rs199472936
rs199472936
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.830 CausalMutation CLINVAR Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080

1998
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.820 CausalMutation CLINVAR

dbSNP: rs121912504
rs121912504
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.810 CausalMutation CLINVAR

dbSNP: rs121912505
rs121912505
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		C 0.810 CausalMutation CLINVAR

dbSNP: rs104894021
rs104894021
KCNH2
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894021
rs104894021
KCNH2
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121912506
rs121912506
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912508
rs121912508
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121912510
rs121912510
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121912511
rs121912511
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121912512
rs121912512
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912513
rs121912513
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121912516
rs121912516
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs199472833
rs199472833
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs199472884
rs199472884
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs199472885
rs199472885
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199472893
rs199472893
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		C 0.800 GeneticVariation CLINVAR

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