rs62434129
This is a regulatory region 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.
diastolic blood pressure, alcohol drinking
Feitosa MF et al. “Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.” Plos One 13(6):e0198166 (2018)
Allele A
OR —
p 4.0e-28
N 133,351
Large GWAS
multi-ancestry
systolic blood pressure, alcohol drinking
Feitosa MF et al. “Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.” Plos One 13(6):e0198166 (2018)
Allele A
OR —
p 5.0e-22
N 133,355
Large GWAS
multi-ancestry
mean arterial pressure, alcohol drinking
Feitosa MF et al. “Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.” Plos One 13(6):e0198166 (2018)
Allele A
OR —
p 2.0e-16
N 133,361
Large GWAS
multi-ancestry
hypertension
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.08
p 4.0e-14
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
systolic blood pressure
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 3.0e-13
N 485,664
Large GWAS
multi-ancestry
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…