rs12808829
This is a synonymous variant in the EML3 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
preserved ratio impaired spirometry
Higbee DH et al. “Genome-wide association study of preserved ratio impaired spirometry (PRISm).” The European Respiratory Journal 63(1) (2024)
Allele G
OR 1.01
p 5.0e-10
N 289,782
Large GWAS
European
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 2.0e-9
N 186,825
Major Consortium StudyLarge GWAS
European
About EML3
Predicted to enable microtubule binding activity. Involved in mitotic metaphase chromosome alignment and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all EML3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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