Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. 17088455

2006
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624

2004
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 9694858

1998
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. 8700910

1996
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573

1995