Disease: Long QT Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation BEFREE Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B). 31415974 2019
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178 2015
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT A molecular mechanism for adrenergic-induced long QT syndrome. 24184248 2014
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation 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: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800 2011
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498 2009
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683 2008
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. 10367071 1999
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. 10220146 1999
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. 9482580 1998
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT A recessive variant of the Romano-Ward long-QT syndrome? 9641694 1998
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. 9570196 1998
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996