rs1474868

This is a intron variant variant in the MFN2 gene.

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GWAS Catalog Trait Associations (1)

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

mitochondrial DNA measurement

Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)

Allele T

OR 0.02

p 4.0e-15

N 295,150

Large GWAS

European

About MFN2

This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

View all MFN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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