rs2555086

This is a intron variant variant in the VSNL1 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 0.02

p 5.0e-9

N 125,000

Large GWAS

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

About VSNL1

This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

View all VSNL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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