rs17318596
This is a regulatory region variant variant in the DMAC2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele A
OR —
β 0.032
p 5.0e-16
N 133,653
Large GWAS
European
base metabolic rate measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 1.0e-12
N 394,642
Large GWAS
European
whole body water mass
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 1.0e-12
N 394,642
Large GWAS
European
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 6.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European
balding measurement
Heilmann-Heimbach S et al. “Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.” Nature Communications 8:14694 (2017)
Allele G
OR 0.12
p 2.0e-8
N 22,518
Meta-analysisLarge GWAS
European
About DMAC2
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
View all DMAC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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