rs3802228

This variant is located in the CYP11B2 gene.

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GWAS Catalog Trait Associations (2)

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

systolic blood pressure

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 A
OR 0.02
p 1.0e-18
N 1,212,859
Large GWAS
European
Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.21
p 1.0e-10
N 459,777
Large GWAS
multi-ancestry

Agents acting on the renin-angiotensin system 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 G
OR 0.04
p 1.0e-12
N 416,256
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Glucocorticoid-remediable aldosteronism; Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency; not provided

View on ClinVar →

About CYP11B2

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]

View all CYP11B2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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