rs1801240
This variant is located in the CUBN gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 C
OR 0.06
p 2.0e-19
N 108,183
Major Consortium StudyLarge GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
5 submitters2 publicationsImerslund-Grasbeck syndrome type 1; Imerslund-Grasbeck syndrome; not provided; not specified
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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