rs3213422

This is a variant in the DHODH gene that changes a lysine to an glutamine.

GWAS Catalog Trait Associations (1)

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

body mass index

Huang J et al. Genomics and phenomics of body mass index reveals a complex disease network. Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 3.0e-9
N 1,122,049
Large GWAS
European

ClinVar annotation

Benign★★★
8 submitters3 publications

Miller syndrome (POADS); not specified

View on ClinVar →

About DHODH

The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

View all DHODH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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