rs942519

This is a variant in the WHRN gene that changes a methionine to an threonine.

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GWAS Catalog Trait Associations (1)

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 0.11

p 1.0e-11

N 810,865

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

9 submitters4 publications

Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palate

AssociationN=291Ariadne Letra et al.(2010)· American Journal of Medical Genetics Part A

Fine mapping study of 50 SNPs across chromosome 9q22.3-34.1 in 291 multiplex families from multiple populations identified association with nonsyndromic cleft lip/palate, primarily with STOM (rs306796; P=0.004 in Guatemala, P=0.002 in pooled families, P=0.04 in US). SNPs in PTCH and nearby FOXE1 also showed association, with gene prioritization analysis ranking PTCH and STOM among the top 14 candidate genes in this region.

Traits studied:Cleft lip and palate (CLCLP)Cleft lip only (CLO)Nonsyndromic cleft lip/palate

PubMed DOI Metascience Observatory

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]