rs1799998
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | Possibly higher odds of developing hypertension |
| (T;T) | 0 | common/normal |
| Make rs1799998(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142918184 |
| Gene | CYP11B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799998 |
| dbSNP (classic) | rs1799998 |
| ClinGen | rs1799998 |
| ebi | rs1799998 |
| HLI | rs1799998 |
| Exac | rs1799998 |
| Gnomad | rs1799998 |
| Varsome | rs1799998 |
| LitVar | rs1799998 |
| Map | rs1799998 |
| PheGenI | rs1799998 |
| Biobank | rs1799998 |
| 1000 genomes | rs1799998 |
| hgdp | rs1799998 |
| ensembl | rs1799998 |
| geneview | rs1799998 |
| scholar | rs1799998 |
| rs1799998 | |
| pharmgkb | rs1799998 |
| gwascentral | rs1799998 |
| openSNP | rs1799998 |
| 23andMe | rs1799998 |
| SNPshot | rs1799998 |
| SNPdbe | rs1799998 |
| MSV3d | rs1799998 |
| GWAS Ctlg | rs1799998 |
| GMAF | 0.3618 |
| Max Magnitude | 2 |
Known as the -344C-T polymorphism in the promoter region of the CYP11B2 gene; associated with higher plasma aldosterone-to-renin (ARR) ratios.
rs1799998(C;C) homozygotes are at higher odds of developing high blood pressure than those with (C;T) or (T;T) genotypes (OR 4.0; CI: 1.4-11.6; P = 0.01).[PMID 17003099]
see also OMIM 124080.0010
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20094057] Aldosterone synthase (CYP11B2) C-344T polymorphism affects the association of age-related changes of the serum C-reactive protein
[PMID 20708777] Association of DNA Polymorphisms Within the CYP11B2/CYP11B1 Locus and Postoperative Hypertension Risk in the Patients With Aldosterone-producing Adenomas
[PMID 21228735] Genetic polymorphism of CYP11B2 gene and stroke intheHan Chinese population and a meta-analysis
[PMID 22508051] Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions
[PMID 22569109
] The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy
[PMID 18279468] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 20339375] Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.
[PMID 20486282] Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.
[PMID 23681285] Association of aldosterone synthase (CYP11B2) gene -344T/C polymorphism with the risk of primary chronic glomerulonephritis in the Polish population
[PMID 23701507] Aldosterone synthase gene (CYP11B2) -344C/T polymorphism contributes to the risk of recurrent cerebral ischemia.
[PMID 25143332] Association of aldosterone synthase (CYP11B2) gene polymorphism with IgA nephropathy risk and progression of IgA nephropathy
| ClinVar | |
|---|---|
| Risk | Rs1799998(C;C) |
| Alt | Rs1799998(C;C) |
| Reference | Rs1799998(T;T) |
| Significance | Other |
| Disease | Aldosterone to renin ratio |
| Variation | info |
| Gene | CYP11B2 |
| CLNDBN | Aldosterone to renin ratio, increased |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143999600A\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018379.27, |
[PMID 26200036] Aldosterone Synthase Promoter Polymorphism and Cardiovascular Phenotypes in a Large, Multiethnic Population-Based Study
[PMID 24722536] Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients
