rs9297949

This variant is located in the NDUFAF6 gene.

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GWAS Catalog Trait Associations (2)

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

urate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.02

p 9.0e-28

N 394,642

Large GWAS

European

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)

Allele A

OR 0.09

p 2.0e-11

N 115,486

Large GWAS

European

About NDUFAF6

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

View all NDUFAF6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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