rs12294259

This is a intron variant variant in the BUD13 gene.

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GWAS Catalog Trait Associations (3)

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

platelet count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.03

p 9.0e-17

N 394,642

Large GWAS

European

level of tether containing UBX domain for GLUT4 in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)

Allele T

OR 1.29

p 8.0e-15

N 197

Small GWAS

European

blood protein amount

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)

Allele T

OR 1.18

p 1.0e-13

N 200

Small GWAS

European

About BUD13

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

View all BUD13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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