rs4550447

This is a downstream gene variant variant in the TUBB3 gene.

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GWAS Catalog Trait Associations (2)

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

handedness

Cuellar-Partida G et al. “Genome-wide association study identifies 48 common genetic variants associated with handedness.” Nature Human Behaviour 5(1):59-70 (2021)
Allele C
OR 1.06
p 5.0e-24
N 1,766,671
Large GWAS
European

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 6.0e-9
N 405,540
Large GWAS
European

About TUBB3

This gene encodes a class III 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 primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

View all TUBB3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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