rs73064425

This is a intron variant variant in the LZTFL1 gene.

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GWAS Catalog Trait Associations (2)

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

respiratory failure, COVID-19

Degenhardt F et al. “Detailed stratified GWAS analysis for severe COVID-19 in four European populations.” Human Molecular Genetics 31(23):3945-3966 (2022)
Allele T
OR 2.34
p 3.0e-30
N 14,137
Large GWAS
European

COVID-19

Horowitz JE et al. “Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.” Nature Genetics 54(4):382-392 (2022)
Allele T
OR 1.29
p 1.0e-15
N 709,148
Large GWAS
multi-ancestry
Kousathanas A et al. “Whole-genome sequencing reveals host factors underlying critical COVID-19.” Nature 607(7917):97-103 (2022)
Allele T
OR —
p 2.0e-8
N 55,891
Large GWAS
multi-ancestry
Lin S et al. “Genome-wide epistasis study highlights genetic interactions influencing severity of COVID-19.” European Journal of Epidemiology 38(8):883-889 (2023)
Allele T
OR 1.49
p 4.0e-10
N 14,855
Large GWAS
European
Pairo-Castineira E et al. “Genetic mechanisms of critical illness in COVID-19.” Nature 591(7848):92-98 (2021)
Allele T
OR 1.70
p 2.0e-28
N 10,056
Large GWAS
multi-ancestry
Schmidt A et al. “Systematic assessment of COVID-19 host genetics using whole genome sequencing data.” Plos Pathogens 20(12):e1012786 (2024)
Allele T
OR 1.44
p 9.0e-10
N 634
Small GWAS
European

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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