rs141212922

This is a downstream gene variant variant in the TUBB4A gene.

GWAS Catalog Trait Associations (1)

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

CD70 antigen measurement

Allele A
OR 0.23
p 1.0e-14
N 47,745
Large GWAS
European

About TUBB4A

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

View all TUBB4A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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