rs2905583

This is a intron variant variant in the KLHL3 gene.

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GWAS Catalog Trait Associations (1)

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

heart rate variability measurement

Tegegne BS et al. “Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality.” Communications Biology 6(1):1013 (2023)

Allele G

OR 0.82

p 4.0e-9

N 46,075

Large GWAS

European

About KLHL3

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

View all KLHL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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