rs415064

This is a synonymous variant in the TUBB1 gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (12)

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

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.17
p 8.0e-228
N 408,112
Large GWAS
European

platelet volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.13
p 1.0e-116
N 408,112
Large GWAS
European
Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)
Allele C
OR 0.05
p 6.0e-22
N 391,597
Large GWAS
European

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.06
p 2.0e-27
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 4.0e-21
N 394,642
Large GWAS
European

reticulocyte amount

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 4.0e-21
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 1.0e-17
N 394,642
Large GWAS
European

icos ligand measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.44
p 8.0e-21
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

platelet count

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)
Allele C
OR 0.05
p 3.0e-18
N 391,231
Large GWAS
European
Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele C
OR 0.11
p 4.0e-11
N 34,457
Large GWAS
East Asian

junctional adhesion molecule-like measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.25
p 4.0e-15
N 10,708
Large GWAS
European

erythrocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 6.0e-15
N 408,112
Large GWAS
European

stathmin-2 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.22
p 3.0e-13
N 10,708
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.22
p 5.0e-13
N 10,708
Large GWAS
European

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…