rs4846914

This is a intron variant variant in the GALNT2 gene.

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GWAS Catalog Trait Associations (15)

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

triglycerides in small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.04
p 4.0e-93
N 450,015
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

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 G
OR 0.04
p 4.0e-48
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.05
p 2.0e-44
N 222,097
Large GWAS
multi-ancestry
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele G
OR 0.01
p 1.0e-13
N 133,824
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 0.61
p 4.0e-21
N 99,900
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 G
OR —
β 0.042
p 9.0e-28
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 G
OR —
β 0.048
p 4.0e-41
N 94,595
Large GWAS
European
Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)
Allele G
OR 0.03
p 1.0e-9
N 62,138
Large GWAS
Hispanic or Latin American
Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele G
OR 0.70
p 4.0e-8
N 29,902
Large GWAS
European
Kathiresan S et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nature Genetics 41(1):56-65 (2009)
Allele G
OR 0.05
p 4.0e-8
N 19,840
Large GWAS
European
Kathiresan S et al. “Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.” Nature Genetics 40(2):189-197 (2008)
Allele G
OR 0.07
p 2.0e-13
N 2,758
Large GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 1.0e-47
N 239,268
Large GWAS
European

total lipids in IDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 3.0e-45
N 450,015
Large GWAS
multi-ancestry

platelet count

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 0.02
p 4.0e-36
N 394,642
Large GWAS
European

triglyceride measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.040
p 7.0e-31
N 94,595
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.04
p 8.0e-31
N 206,044
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 2.76
p 2.0e-14
N 96,598
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 G
OR —
β 0.036
p 1.0e-17
N 94,674
Large GWAS
multi-ancestry
Kathiresan S et al. “Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.” Nature Genetics 40(2):189-197 (2008)
Allele G
OR 0.08
p 7.0e-15
N 2,758
Large GWAS
European

platelet crit

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 0.02
p 3.0e-24
N 394,642
Large GWAS
European

macrophage colony-stimulating factor 1 level

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 2.0e-21
N 47,745
Large GWAS
European

triglycerides in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-20
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke
ReviewGretarsdottir S. et al.(2008)· Annals of Neurology

This review examines 15 years of ischemic stroke susceptibility gene research, organized into three periods: early candidate gene studies (1985-1995) testing variants in hemostasis and homocysteine metabolism genes; expansion period with functional variants discovered from other diseases tested on larger stroke cohorts; and current GWAS-driven large-scale genotyping studies. Key findings include identification of susceptibility loci in CELSR1 (rs6007897, rs4044210 in Japanese populations), PITX2 (rs2200733, rs10033464), and other genes involved in lipid metabolism (APOA5, APOCIII, MLXIPL) and signal transduction (PDE4D, ALOX5AP), with evidence that alleles are often shared across diseases and that careful clinical stratification is critical.

Traits studied:Atrial fibrillationCardioembolic strokeCerebral artery diseaseIschemic strokeLarge-vessel atherosclerotic strokeMyocardial infarctionSmall-vessel occlusion strokeThromboembolismVenous thrombosis
PubMedDOIMetascience Observatory

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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