rs190295257
This is a intron variant variant in the SPIRE2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
skin pigmentation
Vollenbrock CE et al. “Genome-wide association study identifies novel loci associated with skin autofluorescence in individuals without diabetes.” Bmc Genomics 23(1):840 (2022)
Allele C
OR 0.03
p 5.0e-20
N 27,254
Large 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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