rs1585499

This variant is located in the WDR72 gene.

▶

GWAS Catalog Trait Associations (3)

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

level of carbonic anhydrase 12 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.05

p 2.0e-20

N 47,745

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 0.02

p 2.0e-19

N 585,336

Major Consortium StudyLarge GWAS

multi-ancestry

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)

Allele T

OR —

β 0.026

p 9.0e-36

N 406,504

Large GWAS

European

▶

ClinVar annotation

Benign★☆☆☆

1 submitter

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]