rs2280470

This is a intron variant variant in the ACAN gene.

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GWAS Catalog Trait Associations (2)

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

body height

Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele A
OR 0.04
p 3.0e-44
N 253,288
Large GWAS
European
Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele A
OR 0.05
p 2.0e-10
N 57,129
Large GWAS
European
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele A
OR 1.18
p 1.0e-15
N 16,196
Meta-analysisLarge GWAS
European

infant body height

van der Valk RJ et al. “A novel common variant in DCST2 is associated with length in early life and height in adulthood.” Human Molecular Genetics 24(4):1155-68 (2015)
Allele A
OR 0.05
p 6.0e-9
N 28,238
Large GWAS
European

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]

View all ACAN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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