rs9442216

This variant is located in the CLCNKA gene.

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GWAS Catalog Trait Associations (2)

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

cardiomyopathy

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 T

OR 0.10

p 3.0e-23

N 616,393

Major Consortium StudyLarge GWAS

multi-ancestry

right ventricular ejection fraction measurement

Aung N et al. “Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.” Nature Genetics 54(6):783-791 (2022)

Allele T

OR 0.05

p 9.0e-11

N 29,488

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About CLCNKA

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]