rs55925547

This is a intron variant variant in the PLEKHM1 gene.

GWAS Catalog Trait Associations (2)

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

post-traumatic stress disorder symptom measurement

Allele T
OR 0.19
p 2.0e-13
N 186,689
Major Consortium StudyLarge GWAS
European

soluble transferrin receptor measurement

Allara E et al. Novel loci and biomedical consequences of iron homoeostasis variation. Communications Biology 7(1):1631 (2024)
Allele T
OR 0.06
p 2.0e-11
N 45,330
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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