rs12514813

This is a intron variant variant in the ANKRD31 gene.

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GWAS Catalog Trait Associations (1)

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

total cholesterol measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)

Allele G

OR 0.05

p 2.0e-11

N 38,000

Large GWAS

South Asian

About ANKRD31

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]

View all ANKRD31 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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