rs79509430

This is a variant in the WHRN gene that changes a glycine to an aspartate.

GWAS Catalog Trait Associations (1)

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

C-C motif chemokine 2 level

Allele A
OR
β 0.060
p 2.0e-8
N 1,078
Large GWAS
Hispanic or Latin American

ClinVar annotation

Likely Benign★★★
8 submitters4 publications

not specified

View on ClinVar →

About WHRN

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

View all WHRN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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