rs2652822

This is a intron variant variant in the LACTB gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.01
p 3.0e-38
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

metabolite measurement

Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)
Allele C
OR —
β 0.085
p 7.0e-27
N 2,820
Large GWAS
European

About LACTB

This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]

View all LACTB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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