KCNQ1 rs147366964: what the research says
This rare variant in the KCNQ1 gene is associated with an increased risk of long QT syndrome, influencing cardiac repolarization and sudden cardiac death risk.
What each genotype means
Typical KCNQ1 profile
This genotype represents the most common genetic sequence observed at this position in the KCNQ1 gene. It is considered the baseline state, and individuals with this profile do not carry the specific rare variant associated with increased risk of long QT syndrome at this location.
This is the predominant genotype found in the vast majority of the global population.
Rare variant carrier
This genotype indicates the presence of a rare variant in the KCNQ1 gene, which is associated with an increased risk of long QT syndrome. Because this variant is rare and evidence is limited, its clinical significance should be discussed with a cardiologist or genetic counselor to understand how it may influence cardiac repolarization and individual health risks.
This genotype is extremely rare and is primarily identified in specific clinical cohorts rather than the general population.
Rare variant homozygous
This genotype indicates that both copies of the KCNQ1 gene carry this rare variant. Given the association of KCNQ1 variants with long QT syndrome and cardiac arrhythmia risk, this profile warrants professional clinical evaluation. Please consult with a medical specialist to discuss the implications for your cardiac health.
This genotype is exceptionally rare and has not been widely documented in general population databases.
Very low, primarily identified in specific clinical cohorts.
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A pathogenic variant linked to Long QT Syndrome, which can lead to fast, chaotic heartbeats and fainting.
Pathogenic missense variant associated with congenital Long QT syndrome type 1, predisposing to syncope and ventricular arrhythmias.
This variant is associated with Long QT syndrome 1, a condition affecting the heart's electrical activity.
Confers predisposition to Romano-Ward syndrome (long QT syndrome type 1) and sudden cardiac arrhythmia.
Common non-coding intronic variant in KCNQ1 robustly identified in genome-wide association studies as modulating susceptibility to type 2 diabetes and fasting glucose levels.
This variant in the KCNQ1 gene is associated with Romano-Ward Long QT syndrome, a condition that can cause dangerous heart rhythm irregularities.