rs12722976

This variant is located in the COL11A1 gene.

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GWAS Catalog Trait Associations (8)

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

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 10.39
p 3.0e-25
N 33,748
Large GWAS
European

cerebral cortex area attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 8.81
p 1.0e-18
N 33,748
Large GWAS
European
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele G
OR —
p 1.0e-17
N 35,657
Large GWAS
European

Sensorineural hearing impairment

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 3.0e-18
N 572,174
Major Consortium StudyLarge GWAS
multi-ancestry

hearing loss

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 0.04
p 1.0e-16
N 572,412
Major Consortium StudyLarge GWAS
multi-ancestry

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 C
OR 0.02
p 4.0e-13
N 219,872
Major Consortium StudyLarge GWAS
European

hearing loss, Sensorineural hearing impairment

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 0.04
p 8.0e-13
N 315,668
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist-hip ratio

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 C
OR 0.02
p 3.0e-8
N 219,872
Major Consortium StudyLarge GWAS
European

Tinnitus

Clifford RE et al. “Genetic architecture distinguishes tinnitus from hearing loss.” Nature Communications 15(1):614 (2024)
Allele C
OR 8.65
p 5.0e-18
N 481,874
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
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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