rs446518
This is a intron variant variant in the PLEKHA7 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of prolyl 4-hydroxylase subunit alpha-2 in blood serum
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele T
OR 1.05
p 9.0e-12
N 197
Small GWAS
European
About PLEKHA7
Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Jul 2025]
View all PLEKHA7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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