rs3935066

This variant is located in the PLEKHN1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

thyroid carcinoma

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele A

OR 0.12

p 5.0e-13

N 2,917,628

Large GWAS

multi-ancestry

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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