rs921943

This is a intron variant variant in the DMGDH gene.

▶

GWAS Catalog Trait Associations (3)

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

selenium amount

Cornelis MC et al. “Genome-wide association study of selenium concentrations.” Human Molecular Genetics 24(5):1469-77 (2015)
Allele T
OR —
p 2.0e-39
N 9,639
Large GWAS
European

serum selenium amount

Evans DM et al. “Genome-wide association study identifies loci affecting blood copper, selenium and zinc.” Human Molecular Genetics 22(19):3998-4006 (2013)
Allele T
OR 0.25
p 9.0e-28
N 5,477
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 T
OR 1.64
p 9.0e-10
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…