rs76932524
This is a regulatory region variant variant in the TBC1D1 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.
clonal hematopoiesis
Stacey SN et al. “Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.” Nature Genetics 55(12):2149-2159 (2023)
Allele C
OR 142.78
p 1.0e-8
N 59,219
Large GWAS
European
About TBC1D1
TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
View all TBC1D1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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