rs111555996
This is a intron variant variant in the PLVAP 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 bone marrow stromal antigen 2 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.08
p 2.0e-14
N 47,745
Large GWAS
European
About PLVAP
Predicted to enable identical protein binding activity. Involved in MAPK cascade; positive regulation of cellular extravasation; and tumor necrosis factor-mediated signaling pathway. Located in caveola and cell surface. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Jul 2025]
View all PLVAP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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