rs2228552

This variant is located in the COL16A1 gene.

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GWAS Catalog Trait Associations (4)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 8.0e-16
N 2,669,029
Large GWAS
European

glaucoma

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 G
OR 0.04
p 6.0e-14
N 609,053
Major Consortium StudyLarge GWAS
multi-ancestry

open-angle glaucoma

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 G
OR 0.07
p 3.0e-13
N 628,741
Major Consortium StudyLarge GWAS
multi-ancestry
Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele G
OR 0.05
p 2.0e-8
N 432,017
Large GWAS
multi-ancestry

asthma

Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)
Allele T
OR 1.04
p 3.0e-8
N 771,388
Large GWAS
European
Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele T
OR 1.04
p 3.0e-8
N 303,859
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About COL16A1

This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]

View all COL16A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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