rs1805123

This is a variant in the KCNH2 gene that changes a lysine to an threonine.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

QT interval

Bihlmeyer NA et al. “ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.” Circulation. Genomic and Precision Medicine 11(1):e001758 (2018)
Allele G
OR 1.47
p 7.0e-51
N 95,626
Large GWAS
multi-ancestry

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 4.0e-21
N 1,122,049
Large GWAS
European
Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)
Allele G
OR 0.02
p 5.0e-15
N 526,508
Large GWAS
multi-ancestry
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele G
OR 0.02
p 2.0e-12
N 441,761
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 6.0e-12
N 394,642
Large GWAS
European

body height

Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele T
OR 0.01
p 4.0e-12
N 453,169
Large GWAS
European

triglyceride:HDL cholesterol ratio

Oliveri A et al. “Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank.” Nature Genetics 56(2):212-221 (2024)
Allele T
OR 0.02
p 9.0e-10
N 402,398
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters23 publications

Atrial fibrillation; Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome (LQTS); Long QT syndrome 2 (LQT2); Short QT syndrome type 1; not specified

View on ClinVar →

About 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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