rs1030271
This variant is located in the CDC42SE2 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.
mosquito bite reaction size measurement
Jones AV et al. “GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci.” Human Molecular Genetics 26(7):1391-1406 (2017)
Allele G
OR 0.05
p 2.0e-15
N 84,724
Large GWAS
European
diastolic blood pressure
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele C
OR 0.14
p 9.0e-10
N 526,001
Large GWAS
European
atopic eczema
Pasanen A et al. “Identifying Atopic Dermatitis Risk Loci in 1,094,060 Individuals with Subanalysis of Disease Severity and Onset.” The Journal of Investigative Dermatology 144(11):2417-2425 (2024)
Allele C
OR 0.05
p 1.0e-8
N 1,094,060
Large GWAS
multi-ancestry
About CDC42SE2
Enables signaling adaptor activity. Involved in regulation of signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all CDC42SE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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