rs61734651

This is a variant in the COL9A3 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (5)

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

Abnormality of the skeletal system

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 1.0e-20
N 394,642
Large GWAS
European

level of collagen alpha-1(IX) chain in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.10
p 4.0e-19
N 47,745
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 0.01
p 2.0e-10
N 405,979
Large GWAS
European

age-related hearing impairment

Trpchevska N et al. “Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.” American Journal of Human Genetics 109(6):1077-1091 (2022)
Allele T
OR 0.01
p 8.0e-9
N 723,266
Meta-analysisLarge GWAS
European

body height

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 0.08
p 5.0e-15
N 607,510
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Risk Factor★★★☆
13 submitters3 publications

Connective tissue disorder; Intervertebral disc disease, susceptibility to; Stickler syndrome; not specified

View on ClinVar →

About COL9A3

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]

View all COL9A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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