rs6699618

This variant is located in the CLCN6 gene.

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GWAS Catalog Trait Associations (3)

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

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele C

OR 0.53

p 9.0e-78

N 526,001

Large GWAS

European

left ventricular structural measurement

Ning C et al. “Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy.” Nature Communications 14(1):7900 (2023)

Allele G

OR 0.06

p 7.0e-11

N 41,984

Large GWAS

European

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)

Allele G

OR 1.04

p 3.0e-8

N 1,650,345

Meta-analysisLarge GWAS

multi-ancestry

About CLCN6

This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]