rs891512
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Higher blood pressure than G;G |
| (A;G) | 2.5 | Higher blood pressure than G;G |
| (G;G) | 0.1 | Lower blood pressure than those with an A allele |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 151011001 |
| Gene | NOS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs891512 |
| dbSNP (classic) | rs891512 |
| ClinGen | rs891512 |
| ebi | rs891512 |
| HLI | rs891512 |
| Exac | rs891512 |
| Gnomad | rs891512 |
| Varsome | rs891512 |
| LitVar | rs891512 |
| Map | rs891512 |
| PheGenI | rs891512 |
| Biobank | rs891512 |
| 1000 genomes | rs891512 |
| hgdp | rs891512 |
| ensembl | rs891512 |
| geneview | rs891512 |
| scholar | rs891512 |
| rs891512 | |
| pharmgkb | rs891512 |
| gwascentral | rs891512 |
| openSNP | rs891512 |
| 23andMe | rs891512 |
| SNPshot | rs891512 |
| SNPdbe | rs891512 |
| MSV3d | rs891512 |
| GWAS Ctlg | rs891512 |
| GMAF | 0.1244 |
| Max Magnitude | 3 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs891512 (also known as G24943A, IVS25+15 [G→A]) is an intronic variant in the NOS3 gene significantly associated with blood pressure.
[PMID 18246059
] The intronic variant, IVS25+15 [G-->A], was significantly associated with blood pressure; GG homozygotes had significantly lower levels of diastolic blood pressure (DBP) (-2.8 mm Hg; P = 0.016) and systolic blood pressure (SBP) (-1.9 mm Hg; P = 0.018) than A-allele carriers.
[PMID 22425436] eNOS polymorphism rs891512 (G24943A) is associated with hypertension in Chilean individuals (p<0.05).
[PMID 17367796] Two specific SNPs in significant LD with each other (rs891512 and rs1808593) were significantly associated with ABI (ankle-brachial index) in both subsets.
[PMID 17579350] protective haplotype C-T-A (rs2070744-rs1799983-rs891512) was observed (P = 0.01) with a pronounced effect against suicide completion (P = 0.005).
[PMID 17605790] Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts.
[PMID 18482449] Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 21577011] NCAM1, TACR1 and NOS genes and temperament: a study on suicide attempters and controls.
[PMID 26505452] Polymorphic variations in manganese superoxide dismutase (MnSOD) and endothelial nitric oxide synthase (eNOS) genes contribute to the development of type 2 diabetes mellitus in the Chinese Han population
| ClinVar | |
|---|---|
| Risk | Rs891512(G;G) |
| Alt | Rs891512(G;G) |
| Reference | Rs891512(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | NOS3 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.150708089A>G |
| CLNSRC | |
| CLNACC | RCV000455219.1, |
