rs2268532

This is a regulatory region variant variant in the ST6GAL1 gene.

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GWAS Catalog Trait Associations (2)

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

prostate specific antigen amount

Hoffmann TJ et al. “Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.” Nature Genetics 57(2):334-344 (2025)
Allele A
OR 0.03
p 9.0e-49
N 392,522
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 4.0e-13
N 359,803
Major Consortium StudyLarge GWAS
multi-ancestry

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele T
OR —
p 3.0e-8
N 2,535,601
Large GWAS
multi-ancestry

About ST6GAL1

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

View all ST6GAL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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