rs2274316

This is a regulatory region variant variant in the MEF2D gene.

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GWAS Catalog Trait Associations (1)

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

migraine disorder

Anttila V et al. “Genome-wide meta-analysis identifies new susceptibility loci for migraine.” Nature Genetics 45(8):912-917 (2013)

Allele C

OR 1.07

p 1.0e-8

N 118,710

Meta-analysisLarge GWAS

European

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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