rs56005713
This variant is located in the PLEKHM1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
breast cancer, chronotype measurement
Wu X et al. “Using human genetics to understand the phenotypic association between chronotype and breast cancer.” Journal of Sleep Research 33(3):e13973 (2024)
Allele C
OR —
p 3.0e-9
N 696,907
Large GWAS
European
About PLEKHM1
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
View all PLEKHM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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