rs116841148

This variant is located in the LDHA gene.

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GWAS Catalog Trait Associations (1)

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

L lactate dehydrogenase measurement

Kristjansson RP et al. “Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.” Nature Communications 7:10572 (2016)

Allele T

OR 0.20

p 3.0e-11

N 98,585

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

5 submitters3 publications

not provided; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency; not specified

View on ClinVar →

About LDHA

This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023]

View all LDHA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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