rs551225
This variant is located in the WDR72 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
urinary pH measurement
Benonisdottir S et al. “Sequence variants associating with urinary biomarkers.” Human Molecular Genetics 28(7):1199-1211 (2019)
Allele A
OR 0.03
p 3.0e-15
N 149,899
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
6 submitters1 publicationnot specified; Amelogenesis Imperfecta, Recessive; not provided; Amelogenesis imperfecta hypomaturation type 2A3
View on ClinVar →About WDR72
This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
View all WDR72 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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