rs9515203

This is a regulatory region variant variant in the COL4A2 gene.

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GWAS Catalog Trait Associations (12)

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

coronary atherosclerosis

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 T

OR 0.08

p 3.0e-54

N 424,341

Major Consortium StudyLarge GWAS

European

heart disease

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 T

OR 0.08

p 7.0e-42

N 429,794

Major Consortium StudyLarge GWAS

European

angina pectoris

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 T

OR 0.08

p 2.0e-19

N 423,340

Major Consortium StudyLarge GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.06

p 5.0e-10

N 630,096

Large GWAS

multi-ancestry

heart failure

Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)

Allele T

OR 7.98

p 1.0e-15

N 762,151

Large GWAS

European

Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)

Allele T

OR 0.03

p 2.0e-10

N 2,358,556

Large GWAS

multi-ancestry

coronary artery calcification

Gummesson A et al. “A genome-wide association study of imaging-defined atherosclerosis.” Nature Communications 16(1):2266 (2025)

Allele C

OR 0.05

p 3.0e-12

N 26,000

Large GWAS

European

Kavousi M et al. “Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.” Nature Genetics 55(10):1651-1664 (2023)

Allele C

OR 0.12

p 1.0e-8

N 36,720

Large GWAS

multi-ancestry

cardiovascular disease biomarker measurement

Gummesson A et al. “A genome-wide association study of imaging-defined atherosclerosis.” Nature Communications 16(1):2266 (2025)

Allele C

OR 0.14

p 8.0e-11

N 24,811

Large GWAS

European

carotid artery thickness

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele TCACATA

OR 0.04

p 2.0e-15

N 568,836

Large GWAS

European

Yeung MW et al. “Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.” Arteriosclerosis, Thrombosis, and Vascular Biology 42(4):484-501 (2022)

Allele TCACATA

OR 0.06

p 3.0e-18

N 45,185

Meta-analysisLarge GWAS

multi-ancestry

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)

Allele T

OR 1.06

p 6.0e-28

N 1,165,690

Large GWAS

European, NR

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 T

OR 0.07

p 2.0e-19

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)

Allele T

OR 0.07

p 6.0e-24

N 296,525

Large GWAS

drug use measurement, coronary artery disease

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 T

OR 0.07

p 3.0e-15

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

drug use measurement, myocardial infarction

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 T

OR 0.09

p 4.0e-22

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

View on ClinVar →

About COL4A2

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]

rs9515203

GWAS Catalog Trait Associations (12)

coronary atherosclerosis

heart disease

angina pectoris

heart failure

coronary artery calcification

cardiovascular disease biomarker measurement

carotid artery thickness

coronary artery disease

drug use measurement, coronary artery disease

drug use measurement, myocardial infarction

ClinVar annotation

About COL4A2

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