rs9515201

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

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GWAS Catalog Trait Associations (5)

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

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.01
p 5.0e-15
N 315,284
Meta-analysisLarge GWAS
European
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 A
OR 0.02
p 1.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.01
p 7.0e-11
N 316,772
Meta-analysisLarge GWAS
European

non-lobar intracerebral hemorrhage

Chung J et al. “Genome-wide association study of cerebral small vessel disease reveals established and novel loci.” Brain : a Journal of Neurology 142(10):3176-3189 (2019)
Allele A
OR 1.08
p 5.0e-10
N 2,716
Large GWAS
European

hypertrophic cardiomyopathy

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele C
OR 0.13
p 5.0e-9
N 28,106
Large GWAS
European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

small vessel stroke

Mishra A et al. “Stroke genetics informs drug discovery and risk prediction across ancestries.” Nature 611(7934):115-123 (2022)
Allele A
OR 1.11
p 2.0e-8
N 1,517,518
Large GWAS
multi-ancestry

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]

View all COL4A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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