rs12044944

This is a intron variant variant in the FMN2 gene.

GWAS Catalog Trait Associations (5)

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

wnt inhibitory factor 1 measurement

Allele T
OR 0.08
p 5.0e-35
N 47,745
Large GWAS
European

bone disease

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 C
OR 0.07
p 6.0e-12
N 610,293
Major Consortium StudyLarge GWAS
multi-ancestry

adipose amount

Allele C
OR 0.06
p 2.0e-11
N 37,589
Large GWAS
European

bone tissue density

Allele T
OR
β 0.052
p 1.0e-10
N 66,945
Meta-analysisLarge GWAS
multi-ancestry

About FMN2

This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]

View all FMN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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