rs74124334
This is a regulatory region variant variant in the PLEKHO1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
extracellular matrix protein 1 amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.24
p 1.0e-11
N 47,745
Large GWAS
European
About PLEKHO1
Predicted to be involved in regulation of myoblast fusion. Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in muscle cell projection membrane and ruffle membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all PLEKHO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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