rs113397083

This is a intron variant variant in the PLEKHG1 gene.

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GWAS Catalog Trait Associations (2)

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

systolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele A

OR 0.52

p 5.0e-16

N 459,777

Large GWAS

multi-ancestry

diastolic 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 A

OR 0.03

p 5.0e-10

N 485,677

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.

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