rs140019196
This is a protein-altering variant in the PLEKHN1 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.
anorectal malformation
van de Putte R et al. “Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.” Plos One 14(5):e0217477 (2019)
Allele G
OR —
p 1.0e-12
N 2,428
Large GWAS
European
About PLEKHN1
Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in several cellular components, including cytoskeleton; cytosol; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all PLEKHN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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