rs2281721

This is a regulatory region variant variant in the GALNT2 gene.

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GWAS Catalog Trait Associations (32)

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

triglyceride measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.04
p 3.0e-144
N 1,320,016
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 T
OR 0.04
p 2.0e-89
N 455,659
Large GWAS
multi-ancestry
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.05
p 2.0e-70
N 361,194
Large GWAS
European
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele T
OR 0.04
p 1.0e-40
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

triglycerides to total lipids in small LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 8.0e-66
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in large LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 3.0e-54
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.03
p 4.0e-11
N 88,329
Large GWAS
European

triglycerides to total lipids in medium LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 1.0e-52
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in small LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 9.0e-50
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in medium LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 1.0e-41
N 450,015
Large GWAS
multi-ancestry

triglycerides in IDL measurement

Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)
Allele C
OR 0.04
p 2.0e-37
N 199,732
Large GWAS
European

cholesterol to total lipids in small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 1.0e-36
N 450,015
Large GWAS
multi-ancestry

metabolic syndrome

Lind L et al. “Genome-Wide Association Study of the Metabolic Syndrome in UK Biobank.” Metabolic Syndrome and Related Disorders 17(10):505-511 (2019)
Allele C
OR 0.08
p 1.0e-34
N 291,107
Major Consortium StudyLarge GWAS
European

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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