rs11220462

This is a intron variant variant in the ST3GAL4 gene.

GWAS Catalog Trait Associations (6)

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

blood protein amount

Allele A
OR 0.05
p 5.0e-14
N 47,745
Large GWAS
European

low density lipoprotein cholesterol measurement

Allele A
OR 1.24
p 3.0e-8
N 125,692
Large GWAS
multi-ancestry
Allele A
OR 1.95
p 1.0e-15
N 95,454
Large GWAS
European
Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele A
OR
β 0.071
p 3.0e-20
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics 45(11):1274-1283 (2013)
Allele A
OR
β 0.059
p 7.0e-21
N 94,595
Large GWAS
European

total cholesterol measurement

Allele T
OR 0.05
p 2.0e-15
N 219,941
Large GWAS
multi-ancestry
Allele T
OR 2.01
p 2.0e-11
N 100,184
Large GWAS
European
Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele T
OR
β 0.060
p 1.0e-15
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics 45(11):1274-1283 (2013)
Allele T
OR
β 0.047
p 6.0e-15
N 94,595
Large GWAS
European

About ST3GAL4

This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all ST3GAL4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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