rs114139997

This variant is located in the COL18A1 gene.

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GWAS Catalog Trait Associations (2)

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

high density lipoprotein cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)

Allele A

OR 0.07

p 3.0e-16

N 125,000

Large GWAS

African American or Afro-Caribbean, Sub-Saharan African, African unspecified

triglyceride measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)

Allele G

OR 0.24

p 1.0e-28

N 297,626

Major Consortium StudyLarge GWAS

multi-ancestry

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)

Allele G

OR 0.09

p 2.0e-24

N 125,000

Large GWAS

African American or Afro-Caribbean, Sub-Saharan African, African unspecified

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 0.23

p 1.0e-46

N 107,786

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele G

OR 0.26

p 5.0e-49

N 99,432

Large GWAS

African American or Afro-Caribbean, African unspecified

Choudhury A et al. “Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.” Nature Communications 13(1):2578 (2022)

Allele G

OR 0.23

p 4.0e-13

N 24,600

Meta-analysisLarge GWAS

Sub-Saharan African

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ClinVar annotation

Benign★★★☆

4 submitters7 publications

not provided; not specified; COL18A1-related disorder

View on ClinVar →

About COL18A1

This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

rs114139997

GWAS Catalog Trait Associations (2)

high density lipoprotein cholesterol measurement

triglyceride measurement

ClinVar annotation

About COL18A1

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