rs6940540
This is a intron variant variant in the PLEKHG1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypertension, white matter hyperintensity measurement
Sargurupremraj M et al. “Cerebral small vessel disease genomics and its implications across the lifespan.” Nature Communications 11(1):6285 (2020)
Allele G
OR —
p 2.0e-13
N 48,524
Large GWAS
multi-ancestry
white matter hyperintensity measurement
Sargurupremraj M et al. “Cerebral small vessel disease genomics and its implications across the lifespan.” Nature Communications 11(1):6285 (2020)
Allele G
OR 0.04
p 1.0e-13
N 48,524
Large GWAS
multi-ancestry
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.07
p 3.0e-11
N 21,381
Major Consortium StudyLarge GWAS
European
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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