rs72835417

This variant is located in the B4GALNT2 gene.

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GWAS Catalog Trait Associations (10)

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

uromodulin measurement

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 0.17
p 9.0e-237
N 47,745
Large GWAS
European
Li Y et al. “Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.” Jci Insight 7(10) (2022)
Allele A
OR 0.22
p 2.0e-22
N 13,985
Large GWAS
multi-ancestry

HEPACAM family member 2 measurement

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 0.18
p 2.0e-137
N 47,745
Large GWAS
European

receptor tyrosine-protein kinase erbb-4 measurement

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 0.12
p 3.0e-51
N 47,745
Large GWAS
European

protein kinase C-binding protein NELL1 measurement

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 0.11
p 3.0e-45
N 47,745
Large GWAS
European

tumor-associated calcium signal transducer 2 measurement

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 0.06
p 1.0e-22
N 47,745
Large GWAS
European

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 6.0e-21
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

level of carbonic anhydrase 12 in blood serum

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 0.07
p 3.0e-17
N 47,745
Large GWAS
European

Ly6/PLAUR domain-containing protein 3 measurement

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 0.05
p 1.0e-11
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters2 publications

not provided; Uterine carcinosarcoma; Thymoma; Cholangiocarcinoma; Nonpapillary renal cell carcinoma; BLOOD GROUP, SID SYSTEM; Colorectal cancer

View on ClinVar →

About B4GALNT2

B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]

View all B4GALNT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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