Gene: WHRN

Alternate names for this Gene: CIP98|DFNB31|PDZD7B|USH2D|WI

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q32

Description of this Gene: whirlin

Type of Gene: protein-coding

rs74551598 in WHRN gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs79509430 in WHRN gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs2274159 in WHRN gene and Serum total cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.