rs62621400

This variant is located in the CHSY1 gene.

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GWAS Catalog Trait Associations (6)

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

body height

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.04

p 3.0e-71

N 394,642

Large GWAS

European

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 G

OR 0.09

p 1.0e-25

N 607,510

Major Consortium StudyLarge GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.05

p 4.0e-38

N 525,444

Large GWAS

multi-ancestry

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele G

OR 0.05

p 5.0e-65

N 405,540

Large GWAS

European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele C

OR 0.03

p 2.0e-34

N 405,979

Large GWAS

European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele G

OR 0.05

p 4.0e-14

N 186,825

Major Consortium StudyLarge GWAS

European

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele C

OR 0.02

p 3.0e-10

N 373,397

Large GWAS

European

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele G

OR 0.02

p 1.0e-8

N 337,739

Large GWAS

European

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.04

p 5.0e-13

N 928,679

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 C

OR 0.05

p 8.0e-17

N 425,541

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Temtamy preaxial brachydactyly syndrome; not provided; not specified

View on ClinVar →

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]

rs62621400

GWAS Catalog Trait Associations (6)

body height

health trait

BMI-adjusted hip circumference

forced expiratory volume

lean body mass

body weight

ClinVar annotation

About CHSY1

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