rs12798028
This is a regulatory region variant variant in the NDUFS3 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele C
OR 0.02
p 3.0e-27
N 453,169
Large GWAS
European
comparative body size at age 10, self-reported
Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele C
OR 0.01
p 1.0e-24
N 453,169
Large GWAS
European
hypothyroidism
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.03
p 5.0e-12
N 1,178,661
Large GWAS
European
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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