Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554919471
rs1554919471
KCNQ1
C 0.700 CausalMutation CLINVAR Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 29372044

2018
dbSNP: rs1554920808
rs1554920808
KCNQ1
G 0.700 GeneticVariation CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053

2018
dbSNP: rs1554958045
rs1554958045
KCNQ1
T 0.700 CausalMutation CLINVAR A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. 28595573

2017
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199472706
rs199472706
KCNQ1
T 0.700 GeneticVariation CLINVAR Molecular pathogenesis of long QT syndrome type 1. 27761162

2016
dbSNP: rs199472706
rs199472706
KCNQ1
T 0.700 GeneticVariation CLINVAR Genetic analysis, in silico prediction, and family segregation in long QT syndrome. 24667783

2015
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 22456477

2012
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648

2010
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 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: rs199472706
rs199472706
KCNQ1
T 0.700 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: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR Kv7.1 (KCNQ1) properties and channelopathies. 18174212

2008
dbSNP: rs199472706
rs199472706
KCNQ1
T 0.700 GeneticVariation CLINVAR The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes. 17227916

2007
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome. 15746441

2005
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs199472706
rs199472706
KCNQ1
T 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 14760488

2004
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697

2003
dbSNP: rs120074185
rs120074185
KCNQ1
T 0.700 CausalMutation CLINVAR In contrast, a missense mutation, Arg555Cys, identified in the C-terminal domain in 3 families, was associated with a significantly less pronounced QT prolongation (459+/-33 ms, n=41, versus 480+/-32 ms, n=70, P=.0012), and significantly lower percentages of symptomatic carriers (7 of 44, or 16%, P<.001) and sudden deaths (2 of 44, or 5%, P<.01). 9386136

1997
dbSNP: rs121912504
rs121912504
KCNH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554430943
rs1554430943
KCNH2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564821090
rs1564821090
KCNQ1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs199473442
rs199473442
KCNQ1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs758346045
rs758346045
KCNE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR