rs4240470

This is a intron variant variant in the TTLL11 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.01

p 5.0e-11

N 928,679

Large GWAS

multi-ancestry

Alzheimer disease, educational attainment

Kulminski AM et al. “Pleiotropic predisposition to Alzheimer's disease and educational attainment: insights from the summary statistics analysis.” Geroscience 44(1):265-280 (2022)

Allele C

OR 40.06

p 4.0e-8

N 4,029

Large GWAS

About TTLL11

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to act upstream of or within microtubule severing and protein polyglutamylation. Predicted to be located in cytosol. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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