rs784288

This variant is located in the MECOM gene.

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GWAS Catalog Trait Associations (1)

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

osteoporosis

Hwang JY et al. “Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture.” Journal of Medical Genetics 50(4):212-9 (2013)

Allele A

OR 1.39

p 4.0e-8

N 1,427

Meta-analysis

East Asian

About MECOM

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

View all MECOM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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