rs12974991
This variant is located in the NDUFA11 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
heart rate variability measurement
Nolte IM et al. “Genetic loci associated with heart rate variability and their effects on cardiac disease risk.” Nature Communications 8:15805 (2017)
Allele A
OR 0.12
p 2.0e-63
N 26,523
Large GWAS
multi-ancestry
Tegegne BS et al. “Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality.” Communications Biology 6(1):1013 (2023)
Allele A
OR 0.08
p 4.0e-20
N 46,075
Large GWAS
European
heart rate response to recovery post exercise
Ramírez J et al. “Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.” Nature Communications 9(1):1947 (2018)
Allele G
OR 0.57
p 2.0e-9
N 67,257
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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