rs55892892

This variant is located in the CLCN6 gene.

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GWAS Catalog Trait Associations (4)

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

systolic blood pressure

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 0.10
p 2.0e-48
N 609,479
Major Consortium StudyLarge GWAS
multi-ancestry
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.90
p 1.0e-12
N 99,785
Large GWAS
multi-ancestry

essential hypertension

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 0.15
p 2.0e-27
N 607,740
Major Consortium StudyLarge GWAS
multi-ancestry

pulse pressure measurement

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.52
p 8.0e-20
N 321,262
Large GWAS
multi-ancestry

diastolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.45
p 4.0e-18
N 321,262
Large 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]

View all CLCN6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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