rs758890
This variant is located in the KCNH2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
QT interval
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.08
p 6.0e-173
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout KCNH2
This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]
View all KCNH2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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