rs37458

This variant is located in the ST3GAL3 gene.

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GWAS Catalog Trait Associations (8)

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

natural killer cell receptor 2B4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 4.0e-33
N 47,745
Large GWAS
European

T-lymphocyte surface antigen Ly-9 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 4.0e-29
N 47,745
Large GWAS
European

intercellular adhesion molecule 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 G
OR 0.04
p 1.0e-20
N 47,745
Large GWAS
European

blood protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 9.0e-16
N 47,745
Large GWAS
European

level of adhesion G-protein coupled receptor G1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 2.0e-15
N 47,745
Large GWAS
European

allergin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 2.0e-14
N 47,745
Large GWAS
European

adhesion G protein-coupled receptor E2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 3.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
6 submitters2 publications

not specified; Developmental and epileptic encephalopathy, 15; not provided; Intellectual disability, autosomal recessive 12

View on ClinVar →

About ST3GAL3

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

View all ST3GAL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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