rs561111743
This variant is located in the TFEB gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte volume
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 1.0e-16
N 394,642
Large GWAS
European
mean reticulocyte volume
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 3.0e-16
N 394,642
Large GWAS
European
mean corpuscular hemoglobin
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.11
p 8.0e-15
N 394,642
Large GWAS
European
About TFEB
Enables DNA-binding transcription factor activity; enzyme binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including antibacterial innate immune response; cellular response to amino acid starvation; and positive regulation of metabolic process. Located in cytosol and lysosomal membrane. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all TFEB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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