rs647316
This variant is located in the EHD3 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.
platelet volume
Soranzo N et al. “A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.” Nature Genetics 41(11):1182-90 (2009)
Allele A
OR 0.01
p 3.0e-11
N 4,627
Meta-analysisMajor Consortium Study
European
About EHD3
Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all EHD3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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