rs2274159

This is a variant in the WHRN gene that changes a valine to an glutamate.

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GWAS Catalog Trait Associations (2)

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

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele A

OR 0.12

p 5.0e-15

N 810,865

Meta-analysisLarge GWAS

European

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele A

OR 0.12

p 9.0e-15

N 1,028,980

Large GWAS

multi-ancestry

total cholesterol measurement

Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)

Allele G

OR 0.01

p 8.0e-11

N 297,824

Large GWAS

multi-ancestry

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter4 publications

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]