rs6070696

This variant is located in the TUBB1 gene.

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GWAS Catalog Trait Associations (4)

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

level of proline/serine-rich coiled-coil protein 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.10
p 8.0e-40
N 47,745
Large GWAS
European

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele A
OR —
p 6.0e-24
N 234,552
Large GWAS
European

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.05
p 1.0e-16
N 145,648
Large GWAS
East Asian

platelet volume

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 A
OR 0.08
p 2.0e-85
N 476,837
Major Consortium StudyLarge GWAS
multi-ancestry
Hu Y et al. “Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Bmc Genomics 22(1):432 (2021)
Allele A
OR 0.14
p 3.0e-9
N 16,201
Large GWAS
African American or Afro-Caribbean
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.11
p 2.0e-9
N 10,737
Large GWAS
African American or Afro-Caribbean, African unspecified
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About TUBB1

This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]

View all TUBB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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