rs143800963

This variant is located in the CLCN6 gene.

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GWAS Catalog Trait Associations (1)

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

left ventricular mass index

Khurshid S et al. “Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.” Nature Communications 14(1):1558 (2023)
Allele C
OR 0.95
p 4.0e-9
N 43,230
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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