Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning. 24947509 2014
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 22629021 2012
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 20660394 2010
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. 20138589 2010
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695 2007
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919 1999
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996