rs215223

This is a regulatory region variant variant in the B4GALNT3 gene.

GWAS Catalog Trait Associations (6)

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

sclerostin measurement

Allele A
OR 0.14
p 2.0e-73
N 33,961
Meta-analysisLarge GWAS
European

level of secreted frizzled-related protein 4 in blood serum

Allele A
OR 0.09
p 1.0e-54
N 47,745
Large GWAS
European

blood protein amount

Allele A
OR 0.08
p 5.0e-53
N 47,745
Large GWAS
European
Allele A
OR 0.13
p 2.0e-13
N 5,351
Large GWAS
European

cerebellin-4 measurement

Allele A
OR 0.06
p 3.0e-25
N 47,745
Large GWAS
European

tumor necrosis factor ligand superfamily member 12 amount

Allele A
OR 0.05
p 2.0e-24
N 47,745
Large 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 0.05
p 5.0e-46
N 607,511
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 3.0e-49
N 525,444
Large GWAS
multi-ancestry
Allele A
OR 0.02
p 3.0e-19
N 153,950
Large GWAS
East Asian

About B4GALNT3

B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]

View all B4GALNT3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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