rs10908504

This is a intron variant variant in the MEF2D gene.

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GWAS Catalog Trait Associations (4)

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

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.03
p 5.0e-41
N 542,827
Large GWAS
European

synaptosomal-associated protein 25 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 0.05
p 1.0e-17
N 47,745
Large GWAS
European

Antimigraine preparation use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele C
OR 0.12
p 2.0e-9
N 119,844
Major Consortium StudyLarge GWAS
European

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele C
OR 0.04
p 2.0e-9
N 63,706
Major Consortium StudyLarge GWAS
European, NR

About MEF2D

This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

View all MEF2D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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