Gene: KCNQ1OT1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 CausalMutation CLINVAR Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. 26318259

2016
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 GeneticVariation CLINVAR The genetic basis of long QT and short QT syndromes: a mutation update. 19862833

2009
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 GeneticVariation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 CausalMutation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 GeneticVariation CLINVAR Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054

1997
dbSNP: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs794728558
rs794728558
KCNQ1 ; KCNQ1OT1
A 0.700 CausalMutation CLINVAR