rs2887399

This variant is located in the TCL1A gene.

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GWAS Catalog Trait Associations (5)

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 T
OR 0.76
p 3.0e-63
N 59,219
Large GWAS
European
Wen S et al. “Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.” Nature Genetics 57(3):572-582 (2025)
Allele T
OR 1.14
p 2.0e-15
N 398,696
Major Consortium StudyLarge GWAS
European

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele G
OR 0.02
p 6.0e-20
N 438,351
Major Consortium StudyLarge GWAS
European
Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele G
OR 0.02
p 1.0e-8
N 327,790
Large GWAS
European

platelet crit

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 0.02
p 4.0e-18
N 394,642
Large GWAS
European

mosaic loss of chromosome Y measurement

Zhou W et al. “Mosaic loss of chromosome Y is associated with common variation near TCL1A.” Nature Genetics 48(5):563-8 (2016)
Allele G
OR 1.57
p 6.0e-11
N 12,369
Large GWAS
multi-ancestry

basophil measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 4.0e-12
N 330,024
Major Consortium StudyLarge GWAS
multi-ancestry

About TCL1A

Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]

View all TCL1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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