rs6500458

This variant is located in the SPIRE2 gene.

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GWAS Catalog Trait Associations (2)

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

mean reticulocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.03

p 3.0e-27

N 408,112

Large GWAS

European

age-related hearing impairment

Nagtegaal AP et al. “Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.” Scientific Reports 9(1):15192 (2019)

Allele A

OR 0.08

p 1.0e-8

N 9,675

Meta-analysis

multi-ancestry

About SPIRE2

Predicted to enable microtubule binding activity. Involved in establishment of meiotic spindle localization; formin-nucleated actin cable assembly; and positive regulation of double-strand break repair. Predicted to be located in cleavage furrow. Predicted to be active in cell cortex and cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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