rs1023252

This is a regulatory region variant variant 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.

NT-proBNP measurement

Del Greco M F et al. “Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.” Human Molecular Genetics 20(8):1660-71 (2011)

Allele T

OR 0.20

p 4.0e-16

N 1,325

Large GWAS

European

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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