rs123509
This variant is located in the KLHL40 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Abnormality of the skeletal system
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 4.0e-18
N 394,642
Large GWAS
European
body fat distribution
Rask-Andersen M et al. “Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.” Nature Communications 10(1):339 (2019)
Allele T
OR —
β 0.010
p 3.0e-8
N 116,138
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
7 submitters3 publicationsnot specified; Nemaline myopathy 8; not provided
View on ClinVar →About KLHL40
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
View all KLHL40 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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