rs45551835
This variant is located in the CUBN gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Moderate albuminuria
Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele A
OR 1.76
p 2.0e-85
N 348,954
Large GWAS
European, South Asian, East Asian, African American or Afro-Caribbean, Hispanic or Latin American
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 0.17
p 9.0e-28
N 108,183
Major Consortium StudyLarge GWAS
multi-ancestry
urate measurement
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 0.08
p 1.0e-17
N 630,117
Large GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele A
OR 0.08
p 7.0e-15
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
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 0.05
p 9.0e-15
N 394,642
Large GWAS
European
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 0.07
p 1.0e-12
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry
uric acid measurement
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 0.06
p 5.0e-13
N 473,241
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 0.11
p 1.0e-51
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 0.66
p 8.0e-44
N 217,634
Large GWAS
European
urinary albumin to creatinine ratio
Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele A
OR 0.20
p 5.0e-126
N 547,361
Large GWAS
European
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 0.19
p 7.0e-114
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 0.20
p 4.0e-62
N 218,759
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
6 submitters3 publicationsImerslund-Grasbeck syndrome type 1; Imerslund-Grasbeck syndrome; not provided
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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