rs12974440
This is a regulatory region variant variant 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 response to recovery post exercise
Verweij N et al. “Genetic study links components of the autonomous nervous system to heart-rate profile during exercise.” Nature Communications 9(1):898 (2018)
Allele G
OR 0.07
p 1.0e-10
N 58,818
Large GWAS
multi-ancestry
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 0.24
p 5.0e-41
N 24,088
Large GWAS
multi-ancestry
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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