rs10789114

This is a intron variant variant in the DOCK7 gene.

GWAS Catalog Trait Associations (11)

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

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 0.02
p 2.0e-18
N 408,112
Large GWAS
European

fatty acid amount

Allele C
OR
p 2.0e-15
N 239,268
Large GWAS
European

level of CCN family member 1 in blood

Allele C
OR 0.04
p 1.0e-11
N 47,745
Large GWAS
European

About DOCK7

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all DOCK7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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