rs3766744

This is a regulatory region variant variant in the MFN2 gene.

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GWAS Catalog Trait Associations (2)

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

mitochondrial DNA measurement

Chong M et al. “GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.” Elife 11 (2022)
Allele A
OR 0.02
p 3.0e-17
N 395,718
Large GWAS
European, South Asian, African unspecified

platelet count

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 G
OR 0.03
p 4.0e-14
N 114,580
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

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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