rs6425522

This is a intron variant variant in the DNM3 gene.

GWAS Catalog Trait Associations (2)

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 0.22
p
N 408,112
Large GWAS
European

platelet count

Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR
p 3.0e-71
N 235,256
Large GWAS
European
Allele T
OR 0.06
p 1.0e-33
N 145,648
Large GWAS
East Asian

About DNM3

This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

View all DNM3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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