rs562075121

This variant is located in the NDUFA11 gene.

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GWAS Catalog Trait Associations (1)

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

level of 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 in blood, level of 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 in blood

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

Allele G

OR 0.31

p 1.0e-16

N 47,745

Large GWAS

European

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Mitochondrial complex I deficiency, nuclear type 1; not provided

View on ClinVar →

About NDUFA11

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

View all NDUFA11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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