rs2958593

This is a intron variant variant in the CSGALNACT1 gene.

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GWAS Catalog Trait Associations (1)

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

clonal hematopoiesis

Wen S et al. “Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.” Nature Genetics 57(3):572-582 (2025)

Allele T

OR 1.63

p 2.0e-8

N 132,546

Major Consortium StudyLarge GWAS

Hispanic or Latin American

About CSGALNACT1

This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]

View all CSGALNACT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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