rs17617068

This is a intron variant variant in the MAML1 gene.

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GWAS Catalog Trait Associations (1)

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

heart rate

Mezzavilla M et al. “Insight into genetic determinants of resting heart rate.” Gene 545(1):170-4 (2014)

Allele T

OR —

p 1.0e-8

N 855

Small GWAS

European

About MAML1

This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]

View all MAML1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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