rs1801222

This is a variant in the CUBN gene that changes a phenylalanine to an serine.

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GWAS Catalog Trait Associations (8)

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

vitamin B deficiency

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.22
p 7.0e-110
N 614,724
Major Consortium StudyLarge GWAS
multi-ancestry

vitamin B12 measurement

Grarup N et al. “Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.” Plos Genetics 9(6):e1003530 (2013)
Allele G
OR —
p 3.0e-75
N 38,229
Large GWAS
European
Keene KL et al. “Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.” Frontiers in Public Health 2:112 (2014)
Allele G
OR 0.22
p 2.0e-13
N 2,100
Large GWAS
multi-ancestry

megaloblastic anemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.18
p 4.0e-46
N 440,680
Major Consortium StudyLarge GWAS
European

deficiency anemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.14
p 3.0e-35
N 435,625
Major Consortium StudyLarge GWAS
European

body height

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 7.0e-20
N 424,305
Major Consortium StudyLarge GWAS
European
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 3.0e-16
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 6.0e-11
N 405,540
Large GWAS
European
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 0.01
p 8.0e-12
N 394,642
Large GWAS
European

homocysteine measurement

van Meurs JB et al. “Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.” The American Journal of Clinical Nutrition 98(3):668-76 (2013)
Allele A
OR 0.05
p 8.0e-10
N 44,147
Large GWAS
European

vitamin B12 deficiency

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.19
p 3.0e-43
N 442,192
Major Consortium StudyLarge GWAS
European

vitamin deficiency disorder

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.04
p 3.0e-18
N 577,973
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
7 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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Genetic Variants and Associations of 25-Hydroxyvitamin D Concentrations With Major Clinical Outcomes
AssociationN=4,241Gregory P. Levin et al.(2012)· JAMA

This candidate gene association study examined 141 SNPs in 6 vitamin D metabolism genes (VDR, CYP27B1, CYP24A1, GC, LRP2, CUBN) in 1514 participants from the Cardiovascular Health Study, identifying VDR SNP rs7968585 as significantly modifying the association between low 25-hydroxyvitamin D concentration and composite outcomes (hip fracture, MI, cancer, mortality). Among CHS participants, low vitamin D was associated with hazard ratios of 1.40 (95% CI, 1.12-1.74) for 1 minor allele and 1.82 (95% CI, 1.31-2.54) for 2 minor alleles at rs7968585, versus no association (HR 0.93) in those with 0 minor alleles. Findings were replicated in independent meta-analyses of 3 additional cohorts (n=2727), with rs7968585 showing HRR of 1.22 (95% CI, 1.09-1.36) per additional minor allele.

Traits studied:CancerHip fractureMortalityMyocardial infarctionVitamin D concentration
PubMedDOIMetascience 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]

View all CUBN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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