rs10914144

This variant is located in the DNM3 gene.

GWAS Catalog Trait Associations (4)

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

level of E3 ubiquitin-protein ligase ZNRF4 in blood

Allele C
OR 0.20
p 4.0e-144
N 47,745
Large GWAS
European

platelet volume

Gieger C et al. New gene functions in megakaryopoiesis and platelet formation. Nature 480(7376):201-8 (2011)
Allele C
OR 0.01
p 1.0e-24
N 18,600
Large GWAS
European
Allele C
OR 0.01
p 2.0e-14
N 4,627
Meta-analysisMajor Consortium Study
European

platelet count

Gieger C et al. New gene functions in megakaryopoiesis and platelet formation. Nature 480(7376):201-8 (2011)
Allele T
OR 3.42
p 2.0e-12
N 48,666
Large GWAS
European

level of proepiregulin in blood

Allele C
OR 0.05
p 6.0e-12
N 47,745
Large GWAS
European

Research that mentions this SNP (1)

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).

Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes

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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