rs8053204

This is a intron variant variant in the MYLK3 gene.

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GWAS Catalog Trait Associations (1)

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

age at menopause

Zhang L et al. “Joint Genome-Wide Association Analyses Identified 49 Novel Loci For Age at Natural Menopause.” The Journal of Clinical Endocrinology and Metabolism 106(9):2574-2591 (2021)

Allele C

OR 0.10

p 4.0e-11

N 181,219

Large GWAS

European

About MYLK3

Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]

View all MYLK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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