rs62367903

This variant is located in the NDUFAF2 gene.

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GWAS Catalog Trait Associations (1)

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

cerebral cortex area attribute

Grasby KL et al. “The genetic architecture of the human cerebral cortex.” Science (new York, N.y.) 367(6484) (2020)

Allele A

OR 10.05

p 4.0e-22

N 33,992

Large GWAS

European

About NDUFAF2

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

View all NDUFAF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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