rs113322852

This is a upstream gene variant variant in the PLEKHM1 gene.

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GWAS Catalog Trait Associations (2)

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

neuroticism measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)

Allele A

OR 0.02

p 3.0e-19

N 523,783

Large GWAS

European

cognitive function measurement, self reported educational attainment

Demange PA et al. “Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.” Nature Genetics 53(1):35-44 (2021)

Allele T

OR 0.06

p 2.0e-12

N 257,700

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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