rs149764880

This is a intron variant variant in the CLCN6 gene.

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GWAS Catalog Trait Associations (7)

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

mean arterial pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 1.0e-50
N 506,365
Large GWAS
multi-ancestry

systolic blood pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 1.0e-50
N 485,664
Large GWAS
multi-ancestry

hypertension

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 5.0e-38
N 394,626
Large GWAS
European

diastolic blood pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.04
p 1.0e-37
N 485,677
Large GWAS
multi-ancestry

preeclampsia

Honigberg MC et al. “Polygenic prediction of preeclampsia and gestational hypertension.” Nature Medicine 29(6):1540-1549 (2023)
Allele G
OR —
p 9.0e-11
N 455,887
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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