rs142925250

This is a intron variant variant in the PLEKHM1 gene.

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GWAS Catalog Trait Associations (3)

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

sodium measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.02

p 4.0e-13

N 603,256

Major Consortium StudyLarge GWAS

multi-ancestry

ovulation

D'Urso S et al. “Mendelian randomization analysis of factors related to ovulation and reproductive function and endometrial cancer risk.” Bmc Medicine 20(1):419 (2022)

Allele T

OR 0.30

p 1.0e-9

N 118,227

Large GWAS

European

serum albumin amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele A

OR 0.03

p 4.0e-8

N 115,064

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]