rs7744813

This variant is located in the KCNQ5 gene.

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GWAS Catalog Trait Associations (11)

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

refractive error

Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele C
OR 0.20
p 3.0e-72
N 95,827
Major Consortium StudyLarge GWAS
European
Clark R et al. “Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.” Plos Genetics 18(11):e1010478 (2022)
Allele C
OR —
β 0.218
p 8.0e-64
N 88,334
Large GWAS
European

Myopia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 2.0e-48
N 398,816
Major Consortium StudyLarge GWAS
European
Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele C
OR 0.15
p 2.0e-35
N 64,268
Meta-analysisMajor Consortium StudyLarge GWAS
European

refractive error, age at onset, Myopia

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele A
OR 14.55
p 5.0e-48
N 170,420
Meta-analysisLarge GWAS
multi-ancestry

age at onset, Myopia

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele A
OR 0.09
p 7.0e-38
N 104,293
Meta-analysisLarge GWAS
European

Hypermetropia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.07
p 4.0e-31
N 394,687
Major Consortium StudyLarge GWAS
European

optic disc size trait

Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)
Allele A
OR —
β 0.020
p 1.0e-15
N 67,040
Large GWAS
European

primary angle closure glaucoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.13
p 7.0e-14
N 446,964
Major Consortium StudyLarge GWAS
European

cataract

Choquet H et al. “A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.” Nature Communications 12(1):3595 (2021)
Allele A
OR 1.02
p 4.0e-10
N 586,243
Meta-analysisLarge GWAS
multi-ancestry

About KCNQ5

This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

View all KCNQ5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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