rs2280231

This variant is located in the NDUFS3 gene.

GWAS Catalog Trait Associations (1)

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

body height

Allele T
OR 0.02
p 8.0e-94
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

About NDUFS3

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

View all NDUFS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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