rs34949187

This variant is located in the ACAN gene.

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GWAS Catalog Trait Associations (7)

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

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)

Allele A

OR 0.03

p 5.0e-40

N 450,243

Major Consortium StudyLarge GWAS

European

aggrecan core protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.22

p 1.0e-39

N 10,708

Large GWAS

European

whole body water mass

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

Allele A

OR 0.01

p 1.0e-17

N 394,642

Large GWAS

European

base metabolic rate measurement

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

Allele A

OR 0.01

p 1.0e-15

N 394,642

Large GWAS

European

peak expiratory flow

Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)

Allele A

OR 7.58

p 3.0e-14

N 406,020

Large GWAS

multi-ancestry

cartilage thickness measurement

Faber BG et al. “The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses.” Ebiomedicine 95:104759 (2023)

Allele A

OR 0.06

p 8.0e-12

N 50,745

Meta-analysisLarge 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 A

OR 0.03

p 1.0e-10

N 186,825

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

Osteochondritis dissecans; not provided; Spondyloepimetaphyseal dysplasia, aggrecan type; Spondyloepiphyseal dysplasia, Kimberley type

View on ClinVar →

About ACAN

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

rs34949187

GWAS Catalog Trait Associations (7)

appendicular lean mass

aggrecan core protein measurement

whole body water mass

base metabolic rate measurement

peak expiratory flow

cartilage thickness measurement

BMI-adjusted hip circumference

ClinVar annotation

About ACAN

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