rs6797002

This is a intron variant variant in the KLHL24 gene.

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GWAS Catalog Trait Associations (1)

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

white matter hyperintensity measurement

Sargurupremraj M et al. “Cerebral small vessel disease genomics and its implications across the lifespan.” Nature Communications 11(1):6285 (2020)

Allele C

OR 0.05

p 8.0e-14

N 50,970

Large GWAS

multi-ancestry

About KLHL24

The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]

View all KLHL24 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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