rs56282717
This variant is located in the KCNH2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body mass index
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 1.0e-16
N 928,679
Large GWAS
multi-ancestry
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.02
p 3.0e-10
N 342,566
Large GWAS
European
metabolic syndrome
Lind L et al. “Genome-Wide Association Study of the Metabolic Syndrome in UK Biobank.” Metabolic Syndrome and Related Disorders 17(10):505-511 (2019)
Allele A
OR 0.05
p 2.0e-9
N 291,107
Major Consortium StudyLarge GWAS
European
body fat distribution
Rask-Andersen M et al. “Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.” Nature Communications 10(1):339 (2019)
Allele A
OR —
β 0.021
p 7.0e-9
N 116,138
Large GWAS
European
▶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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…