rs752092

This is a intron variant variant in the CHSY1 gene.

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GWAS Catalog Trait Associations (2)

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

corneal topography

Lu Y et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nature Genetics 45(2):155-63 (2013)
Allele A
OR 0.08
p 2.0e-9
N 20,020
Large GWAS
multi-ancestry

central corneal thickness

Iglesias AI et al. “Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.” Nature Communications 9(1):1864 (2018)
Allele A
OR 2.21
p 3.0e-8
N 17,803
Large GWAS
European
He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele A
OR 1.33
p 5.0e-8
N 17,803
Major Consortium StudyLarge GWAS
European

About CHSY1

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

View all CHSY1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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