rs4309
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4309(C;T) |
| Make rs4309(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 63482562 |
| Gene | ACE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4309 |
| dbSNP (classic) | rs4309 |
| ClinGen | rs4309 |
| ebi | rs4309 |
| HLI | rs4309 |
| Exac | rs4309 |
| Gnomad | rs4309 |
| Varsome | rs4309 |
| LitVar | rs4309 |
| Map | rs4309 |
| PheGenI | rs4309 |
| Biobank | rs4309 |
| 1000 genomes | rs4309 |
| hgdp | rs4309 |
| ensembl | rs4309 |
| geneview | rs4309 |
| scholar | rs4309 |
| rs4309 | |
| pharmgkb | rs4309 |
| gwascentral | rs4309 |
| openSNP | rs4309 |
| 23andMe | rs4309 |
| SNPshot | rs4309 |
| SNPdbe | rs4309 |
| MSV3d | rs4309 |
| GWAS Ctlg | rs4309 |
| GMAF | 0.421 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20854388] Investigation of ACE, ACE2 and AGTR1 genes for association with nephropathy in Typeâ??1 diabetes mellitus
[PMID 17092869] Haplotype structure of five SNPs within the ACE gene in the Tunisian population.
[PMID 18698231
] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 19132786] Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European Caucasians.
[PMID 20215856] Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head.
[PMID 26403748] [Association between angiotensin-converting enzyme gene polymorphism and Alzheimer's disease]
[PMID 26436397] Correlation between single nucleotide polymorphisms in hypoxia-related genes and susceptibility to acute high-altitude pulmonary edema
| ClinVar | |
|---|---|
| Risk | rs4309(T;T) |
| Alt | rs4309(T;T) |
| Reference | Rs4309(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Renal dysplasia |
| Variation | info |
| Gene | ACE |
| CLNDBN | not specified Renal dysplasia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.61559923C>T |
| CLNSRC | |
| CLNACC | RCV000247405.1, RCV000287918.1, |
[PMID 30254660] MS4A2-rs573790 Is Associated With Aspirin-Exacerbated Respiratory Disease: Replicative Study Using a Candidate Gene Strategy.
