rs140652237

This variant is located in the MTDH gene.

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GWAS Catalog Trait Associations (1)

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

mast cell-expressed membrane protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.27

p 2.0e-14

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

View on ClinVar →

About MTDH

Enables NF-kappaB binding activity; double-stranded RNA binding activity; and transcription coactivator activity. Involved in several processes, including lipopolysaccharide-mediated signaling pathway; positive regulation of intracellular signal transduction; and regulation of DNA-templated transcription. Located in endoplasmic reticulum; nuclear lumen; and perinuclear region of cytoplasm. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

View all MTDH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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