rs5534
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs5534(A;G) |
| Make rs5534(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 148079934 |
| Gene | NR3C2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5534 |
| dbSNP (classic) | rs5534 |
| ClinGen | rs5534 |
| ebi | rs5534 |
| HLI | rs5534 |
| Exac | rs5534 |
| Gnomad | rs5534 |
| Varsome | rs5534 |
| LitVar | rs5534 |
| Map | rs5534 |
| PheGenI | rs5534 |
| Biobank | rs5534 |
| 1000 genomes | rs5534 |
| hgdp | rs5534 |
| ensembl | rs5534 |
| geneview | rs5534 |
| scholar | rs5534 |
| rs5534 | |
| pharmgkb | rs5534 |
| gwascentral | rs5534 |
| openSNP | rs5534 |
| 23andMe | rs5534 |
| SNPshot | rs5534 |
| SNPdbe | rs5534 |
| MSV3d | rs5534 |
| GWAS Ctlg | rs5534 |
| GMAF | 0.4412 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21677697] SNPs in MicroRNA Binding Sites in 3'-UTRs of RAAS Genes Influence Arterial Blood Pressure and Risk of Myocardial Infarction
[PMID 25714450] Depressed patients in remission show an interaction between variance in the mineralocorticoid receptor NR3C2 gene and childhood trauma on negative memory bias
| ClinVar | |
|---|---|
| Risk | rs5534(G;G) |
| Alt | rs5534(G;G) |
| Reference | Rs5534(A;A) |
| Significance | Non-pathogenic |
| Disease | Pseudohypoaldosteronism |
| Variation | info |
| Gene | NR3C2 |
| CLNDBN | Pseudohypoaldosteronism, Type I, Dominant |
| Reversed | 1 |
| HGVS | NC_000004.11:g.149001085T>C |
| CLNSRC | |
| CLNACC | RCV000298395.1, |
