rs7966590
This variant is located in the B4GALNT3 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alkaline phosphatase measurement
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.01
p 3.0e-162
N 437,438
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.05
p 5.0e-152
N 463,178
Large GWAS
multi-ancestry
Thyroid stimulating hormone level
Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele A
OR 0.04
p 3.0e-22
N 164,818
Large GWAS
European
Zhou W et al. “GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.” Nature Communications 11(1):3981 (2020)
Allele A
OR 0.04
p 6.0e-14
N 119,715
Large GWAS
European
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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