rs141640975

This variant is located in the CUBN gene.

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GWAS Catalog Trait Associations (5)

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

urinary albumin to creatinine ratio

Casanova F et al. “A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.” Human Molecular Genetics 28(24):4197-4207 (2019)
Allele A
OR 0.45
p 5.0e-113
N 437,027
Large GWAS
European
Zanetti D et al. “Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion.” Kidney International 95(5):1197-1208 (2019)
Allele A
OR 0.42
p 1.0e-51
N 218,759
Large GWAS
European

urinary microalbumin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.36
p 3.0e-26
N 108,183
Major Consortium StudyLarge GWAS
multi-ancestry

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 0.14
p 4.0e-12
N 928,679
Large 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 0.11
p 8.0e-9
N 494,370
Large GWAS
multi-ancestry

albuminuria

Haas ME et al. “Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.” American Journal of Human Genetics 103(4):461-473 (2018)
Allele A
OR 0.33
p 3.0e-84
N 302,687
Large GWAS
European
Zanetti D et al. “Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion.” Kidney International 95(5):1197-1208 (2019)
Allele A
OR —
β 1.237
p 3.0e-44
N 217,634
Large GWAS
European

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 A
OR 0.12
p 2.0e-9
N 406,504
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
9 submitters9 publications

Imerslund-Grasbeck syndrome type 1; not specified; not provided; Imerslund-Grasbeck syndrome; CUBN-related disorder; Imerslund-Grasbeck syndrome type 1;Proteinuria, chronic benign

View on ClinVar →

About CUBN

Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

View all CUBN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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