rs11712469

This is a intron variant variant in the LZTFL1 gene.

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GWAS Catalog Trait Associations (1)

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

COVID-19

Diz-de Almeida S et al. “Novel risk loci for COVID-19 hospitalization among admixed American populations.” Elife 13 (2024)

Allele T

OR 0.08

p 1.0e-17

N 73,303

Large GWAS

multi-ancestry

About LZTFL1

This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]

View all LZTFL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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