rs578595
This variant is located in the WDR72 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood sodium bicarbonate amount
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 9.0e-16
N 412,277
Major Consortium StudyLarge GWAS
European
citrate measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 1.0e-14
N 450,015
Large GWAS
multi-ancestry
urolithiasis
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.08
p 2.0e-12
N 667,072
Large GWAS
multi-ancestry
nephrolithiasis
Howles SA et al. “Genetic variants of calcium and vitamin D metabolism in kidney stone disease.” Nature Communications 10(1):5175 (2019)
Allele C
OR 1.09
p 6.0e-11
N 429,501
Large GWAS
multi-ancestry
Lovegrove CE et al. “Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.” Journal of the American Society of Nephrology : Jasn 34(12):1991-2011 (2023)
Allele C
OR 1.10
p 4.0e-9
N 397,323
Large GWAS
European
chloride level
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 2.0e-21
N 585,501
Major Consortium StudyLarge GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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