rs16876394

This is a intron variant variant in the DMGDH gene.

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GWAS Catalog Trait Associations (2)

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

plasma betaine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.03
p 1.0e-19
N 7,806
Large GWAS
European

protein measurement

He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele C
OR 2.30
p 8.0e-9
N 287
Small GWAS
multi-ancestry

About DMGDH

This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all DMGDH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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