rs17730281

This is a variant in the WDR72 gene that changes a leucine to an phenylalanine.

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GWAS Catalog Trait Associations (8)

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

serum creatinine amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.03

p 1.0e-86

N 928,679

Large GWAS

multi-ancestry

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 A

OR 0.04

p 6.0e-35

N 601,544

Major Consortium StudyLarge GWAS

multi-ancestry

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 0.04

p 2.0e-36

N 150,266

Large GWAS

East Asian

glomerular filtration rate

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)

Allele G

OR 0.00

p 6.0e-71

N 1,201,930

Large GWAS

multi-ancestry

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)

Allele G

OR 15.88

p 9.0e-57

N 1,508,659

Large GWAS

multi-ancestry

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 G

OR 0.04

p 6.0e-32

N 571,234

Major Consortium StudyLarge GWAS

multi-ancestry

Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)

Allele G

OR 13.18

p 1.0e-39

N 350,514

Meta-analysisLarge GWAS

multi-ancestry

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)

Allele G

OR 0.46

p 2.0e-11

N 58,406

Large GWAS

East Asian

kidney failure

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 G

OR 0.06

p 2.0e-19

N 598,933

Major Consortium StudyLarge GWAS

multi-ancestry

chronic kidney disease

Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)

Allele G

OR 1.08

p 1.0e-18

N 625,219

Large GWAS

European, NR

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 G

OR 0.06

p 5.0e-13

N 621,305

Major Consortium StudyLarge GWAS

multi-ancestry

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 G

OR 0.03

p 6.0e-17

N 412,365

Major Consortium StudyLarge GWAS

European

serum urea amount

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

Allele A

OR 0.02

p 3.0e-16

N 394,642

Large GWAS

European

urinary system trait, blood urea nitrogen amount

Okada Y et al. “Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.” Nature Genetics 44(8):904-9 (2012)

Allele G

OR 0.01

p 3.0e-11

N 39,717

Meta-analysisLarge GWAS

East Asian

blood urea nitrogen amount

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)

Allele G

OR 0.01

p 2.0e-25

N 852,680

Large GWAS

European

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 G

OR 0.03

p 4.0e-31

N 599,920

Major Consortium StudyLarge GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.03

p 3.0e-35

N 492,819

Large GWAS

multi-ancestry

Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)

Allele G

OR 0.01

p 2.0e-24

N 416,178

Large GWAS

European, NR

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ClinVar annotation

Likely Benign★★★☆

6 submitters1 publication

Amelogenesis Imperfecta, Recessive; Amelogenesis imperfecta hypomaturation type 2A3; not specified

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]

rs17730281

GWAS Catalog Trait Associations (8)

serum creatinine amount

glomerular filtration rate

kidney failure

chronic kidney disease

chloride level

serum urea amount

urinary system trait, blood urea nitrogen amount

blood urea nitrogen amount

ClinVar annotation

About WDR72

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