rs7989823

This variant is located in the COL4A2 gene.

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GWAS Catalog Trait Associations (4)

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

Antithrombotic agent use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.06
p 1.0e-13
N 178,726
Large GWAS
East Asian

aspirin use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.06
p 8.0e-11
N 178,726
Large GWAS
East Asian

diastolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.15
p 6.0e-9
N 321,262
Large GWAS
multi-ancestry

Ischemic stroke

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.05
p 4.0e-9
N 658,807
Large GWAS
multi-ancestry
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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters1 publication

Porencephaly 2; Ovarian serous cystadenocarcinoma

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]

View all COL4A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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