rs146859437

This is a intron variant variant in the EHD3 gene.

GWAS Catalog Trait Associations (6)

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

platelet component distribution width

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.26
p 4.0e-50
N 408,112
Large GWAS
European
Allele C
OR 0.23
p 9.0e-15
N 164,433
Large GWAS
European

platelet volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.20
p 2.0e-29
N 408,112
Large GWAS
European

monocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.14
p 6.0e-17
N 408,112
Large GWAS
European

lymphocyte percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.12
p 3.0e-12
N 408,112
Large GWAS
European

neutrophil count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.12
p 4.0e-12
N 408,112
Large GWAS
European

leukocyte quantity

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.10
p 2.0e-9
N 408,112
Large GWAS
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…