rs11207995
This is a intron variant variant in the DOCK7 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 C
OR 0.07
p 1.0e-30
N 5,662
Large GWAS
South Asian
level of phosphatidylcholine
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 6.91
p 5.0e-12
N 16,839
Large GWAS
European
low density lipoprotein cholesterol measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.036
p 4.0e-13
N 94,674
Large GWAS
multi-ancestry
total cholesterol measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.059
p 2.0e-33
N 94,674
Large GWAS
multi-ancestry
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele A
OR 0.08
p 2.0e-34
N 62,166
Large GWAS
European
Zhou L et al. “A genome wide association study identifies common variants associated with lipid levels in the Chinese population.” Plos One 8(12):e82420 (2013)
Allele A
OR 0.01
p 6.0e-10
N 3,451
Large GWAS
East Asian
triglyceride measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.060
p 3.0e-41
N 94,674
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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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