rs7830
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs7830(A;A) |
| Make rs7830(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 151012483 |
| Gene | ATG9B, NOS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7830 |
| dbSNP (classic) | rs7830 |
| ClinGen | rs7830 |
| ebi | rs7830 |
| HLI | rs7830 |
| Exac | rs7830 |
| Gnomad | rs7830 |
| Varsome | rs7830 |
| LitVar | rs7830 |
| Map | rs7830 |
| PheGenI | rs7830 |
| Biobank | rs7830 |
| 1000 genomes | rs7830 |
| hgdp | rs7830 |
| ensembl | rs7830 |
| geneview | rs7830 |
| scholar | rs7830 |
| rs7830 | |
| pharmgkb | rs7830 |
| gwascentral | rs7830 |
| openSNP | rs7830 |
| 23andMe | rs7830 |
| SNPshot | rs7830 |
| SNPdbe | rs7830 |
| MSV3d | rs7830 |
| GWAS Ctlg | rs7830 |
| GMAF | 0.3632 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19815736
] The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use
[PMID 21968727] Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China
[PMID 22025889] Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma
[PMID 17367796] Association of polymorphisms in NOS3 with the ankle-brachial index in hypertensive adults.
[PMID 17980690] Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.
[PMID 21245953] Association of genetic polymorphisms of eNOS with glaucoma.
[PMID 22368302] Single nucleotide polymorphisms in the NOS2 and NOS3 genes are associated with exhaled nitric oxide.
[PMID 22982457] eNOS gene polymorphisms modify the association of PM(10) with oxidative stress.
[PMID 23062210] eNOS tag SNP haplotypes in hypertensive disorders of pregnancy.
[PMID 23069892] Effects of endothelial nitric oxide synthase tagSNPs haplotypes on nitrite levels in black subjects.
[PMID 24085449] Polymorphisms in the endothelial nitric oxide synthase gene associated with recurrent miscarriage
[PMID 24938467] Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease
[PMID 27706723] Association between functional polymorphisms in the nitric oxide synthase 3 gene and pediatric acute respiratory distress syndrome.
| ClinVar | |
|---|---|
| Risk | rs7830(A;A) |
| Alt | rs7830(A;A) |
| Reference | Rs7830(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | NOS3 ATG9B |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150709571G>T |
| CLNSRC | |
| CLNACC | RCV000455864.1, |
