rs72813426
This variant is located in the SPIRE2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
brain attribute
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 17.78
p 1.0e-70
N 33,748
Large GWAS
European
Sha Z et al. “The genetic architecture of structural left-right asymmetry of the human brain.” Nature Human Behaviour 5(9):1226-1239 (2021)
Allele G
OR —
p 2.0e-14
N 32,256
Large GWAS
European
cerebral cortex area attribute
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 10.73
p 7.0e-27
N 33,748
Large GWAS
European
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele G
OR —
p 1.0e-17
N 35,657
Large GWAS
European
cortical thickness
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 9.63
p 6.0e-22
N 33,748
Large GWAS
European
brain connectivity attribute
Sha Z et al. “Genetic architecture of the white matter connectome of the human brain.” Science Advances 9(7):eadd2870 (2023)
Allele A
OR 7.24
p 4.0e-13
N 30,810
Large GWAS
European
neuroimaging measurement
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.07
p 2.0e-8
N 20,860
Major Consortium StudyLarge GWAS
European
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]
View all SPIRE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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