rs62434120
This is a intron variant variant in the PLEKHG1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Red cell distribution width
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 —
p 3.0e-15
N 563,352
Large GWAS
multi-ancestry
systolic blood pressure
Liang J et al. “Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.” Plos Genetics 13(5):e1006728 (2017)
Allele T
OR 0.99
p 6.0e-9
N 31,155
Large GWAS
multi-ancestry
low density lipoprotein cholesterol measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 4.0e-8
N 928,679
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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