Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502608
rs1060502608
CALM3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553431711
rs1553431711
CALM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553698563
rs1553698563
SCN5A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555814427
rs1555814427
CALM3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs786204778
rs786204778
KCNQ1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728865
rs794728865
SCN5A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136

1997
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006

1997
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963

1999
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595

1999
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 14510661

2003
dbSNP: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
dbSNP: rs137854601
rs137854601
SCN5A
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: rs199472696
rs199472696
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: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs28928905
rs28928905
KCNH2
0.010 GeneticVariation BEFREE In conclusion, the Ala490Pro mutation of the human ether-a-go-go-related gene is a rare, novel mutation that was inherited in this family, leading to Romano-Ward syndrome with complete penetrance. 17560885

2007
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. 18508782

2008
dbSNP: rs397508112
rs397508112
KCNQ1
C 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: rs794728565
rs794728565
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: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648

2010