rs11164653

This variant is located in the COL11A1 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

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 T
OR 0.02
p 2.0e-52
N 928,679
Large GWAS
multi-ancestry

osteoarthritis, hip

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele T
OR 0.94
p 8.0e-26
N 1,152,707
Large GWAS
multi-ancestry
Boer CG et al. “Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.” Cell 184(18):4784-4818.e17 (2021)
Allele T
OR 0.92
p 3.0e-18
N 353,388
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters

not provided; Uterine corpus endometrial carcinoma; Cholangiocarcinoma; Familial cancer of breast; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →

About COL11A1

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

View all COL11A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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