rs17080091
This is a intron variant variant in the PLEKHG1 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.
hematocrit
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.02
p 5.0e-10
N 562,259
Large GWAS
European
systolic blood pressure, waist-hip ratio
Huang LO et al. “Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.” Nature Metabolism 3(2):228-243 (2021)
Allele T
OR —
p 5.0e-10
N 376,783
Large GWAS
multi-ancestry
coronary artery disease
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele T
OR 0.05
p 6.0e-9
N 547,261
Large GWAS
mean arterial pressure
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele C
OR 0.94
p 4.0e-13
N 100,453
Large GWAS
East Asian
systolic blood pressure
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele C
OR 1.29
p 2.0e-11
N 100,453
Large GWAS
East Asian
About PLEKHG1
Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all PLEKHG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…