rs142808358

This variant is located in the NUP107 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 leiomyoma

Sliz E et al. “Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.” Nature Communications 14(1):542 (2023)

Allele T

OR 0.87

p 5.0e-9

N 367,903

Large GWAS

European

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

View on ClinVar →

About NUP107

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

View all NUP107 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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