rs34324219
This variant is located in the TCN1 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
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 C
OR 0.34
p 4.0e-131
N 437,580
Major Consortium StudyLarge GWAS
European
protein measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.51
p 3.0e-125
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele A
OR 0.31
p 2.0e-13
N 2,721
Large GWAS
European
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 C
OR —
p 1.0e-111
N 38,229
Large GWAS
European
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele C
OR 0.28
p 2.0e-51
N 38,000
Large GWAS
South Asian
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 C
OR 0.29
p 5.0e-11
N 2,100
Large GWAS
multi-ancestry
Nongmaithem SS et al. “GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians.” Human Molecular Genetics 26(13):2551-2564 (2017)
Allele C
OR 0.34
p 4.0e-8
N 1,001
Large GWAS
South Asian
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 C
OR 0.30
p 3.0e-63
N 440,680
Major Consortium StudyLarge 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 C
OR 0.32
p 6.0e-62
N 442,192
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 C
OR 0.25
p 1.0e-53
N 435,625
Major Consortium StudyLarge GWAS
European
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.43
p 4.0e-47
N 5,354
Large GWAS
European
transcobalamin-1 measurement
Allele A
OR —
β 0.400
p 3.0e-25
N 3,301
Large 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 C
OR 0.07
p 9.0e-21
N 577,973
Major Consortium StudyLarge GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
5 submitters2 publicationsnot provided; Transcobalamin I deficiency; not specified
View on ClinVar →About TCN1
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]
View all TCN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…