rs4374609

This is a coding sequence variant variant in the TRMT44 gene.

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GWAS Catalog Trait Associations (1)

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

carboxypeptidase Z measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.11

p 1.0e-15

N 10,708

Large GWAS

European

About TRMT44

The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]

View all TRMT44 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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