rs1305520
This is a intron variant variant in the DOCK7 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Hypercholesterolemia
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.09
p 7.0e-40
N 394,626
Large GWAS
European
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 5.0e-32
N 110,346
Large GWAS
European
level of phosphatidylinositol
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.14
p 1.0e-25
N 5,662
Large GWAS
South Asian
cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 8.0e-22
N 136,016
Large GWAS
multi-ancestry
triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 7.0e-20
N 136,016
Large GWAS
multi-ancestry
phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 4.0e-12
N 136,016
Large GWAS
multi-ancestry
phospholipids:total lipids ratio, blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 5.0e-11
N 136,016
Large GWAS
multi-ancestry
linoleic acid measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 8.0e-11
N 70,413
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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