rs1801239

This is a variant in the CUBN gene that changes a isoleucine to an valine.

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GWAS Catalog Trait Associations (1)

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

albuminuria

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 T

OR 0.24

p 4.0e-27

N 217,634

Large GWAS

European

Böger CA et al. “CUBN is a gene locus for albuminuria.” Journal of the American Society of Nephrology : Jasn 22(3):555-70 (2011)

Allele T

OR —

β 0.084

p 1.0e-11

N 31,580

Large GWAS

European

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ClinVar annotation

Benign★★★☆

6 submitters2 publications

Imerslund-Grasbeck syndrome; Imerslund-Grasbeck syndrome type 1 (IGS1)

View on ClinVar →

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Research that mentions this SNP (1)

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Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes

AssociationN=5,675Sandholm N. et al.(2014)· Diabetologia

This genome-wide association study examined genetic variants associated with urinary albumin excretion rate (AER) in 1,925 type 1 diabetes patients, with replication in 3,750 additional patients. Five SNPs in the GLRA3 gene reached genome-wide significance in the discovery stage (rs10011025 p<1.5×10⁻⁹, β=0.21), but replication showed opposite direction effects, suggesting population-specific rare variants. The strongest replication signal (p=0.026) was for rs2410601 between PSD3 and SH2D4A genes.

Traits studied:AlbuminuriaDiabetic nephropathyType 1 diabetesUrinary albumin excretion rate

PubMed DOI Metascience Observatory

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]