rs73187787

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.

BMI-adjusted adiponectin measurement

Spracklen CN et al. “Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.” Plos Genetics 16(9):e1009019 (2020)
Allele T
OR 0.13
p 2.0e-10
N 9,262
Large GWAS
European

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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