rs4846921

This is a intron variant variant in the GALNT2 gene.

GWAS Catalog Trait Associations (14)

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

total cholesterol change measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 3.0e-40
N 136,016
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Allele G
OR 0.05
p 6.0e-39
N 115,082
Large GWAS
European
Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele G
OR 0.04
p 9.0e-28
N 136,016
Large GWAS
multi-ancestry
Allele G
OR 0.06
p 3.0e-16
N 38,000
Large GWAS
South Asian

apolipoprotein A 1 measurement

Allele G
OR 0.05
p 3.0e-34
N 115,082
Large GWAS
European

cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-16
N 136,016
Large GWAS
multi-ancestry

About GALNT2

This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

View all GALNT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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