rs1405696

This variant is located in the SYNE1 gene.

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GWAS Catalog Trait Associations (1)

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

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)

Allele A

OR 0.07

p 3.0e-20

N 709,132

Meta-analysisLarge GWAS

multi-ancestry

About SYNE1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

View all SYNE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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