rs139359211

This variant is located in the CBLIF gene.

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GWAS Catalog Trait Associations (1)

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

level of cobalamin binding intrinsic factor in blood

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

Allele G

OR 0.51

p 9.0e-23

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

2 submitters2 publications

Hereditary intrinsic factor deficiency; not provided

View on ClinVar →

About CBLIF

This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

View all CBLIF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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