rs114445464

This is a regulatory region variant variant in the FSCN2 gene.

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GWAS Catalog Trait Associations (1)

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

total cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)

Allele T

OR 0.06

p 2.0e-8

N 125,000

Large GWAS

African American or Afro-Caribbean, Sub-Saharan African, African unspecified

About FSCN2

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all FSCN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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