rs45487298
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| Make rs45487298(-;G) |
| Make rs45487298(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 209706873 |
| Gene | HSD11B1, LOC101930114 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45487298 |
| dbSNP (classic) | rs45487298 |
| ClinGen | rs45487298 |
| ebi | rs45487298 |
| HLI | rs45487298 |
| Exac | rs45487298 |
| Gnomad | rs45487298 |
| Varsome | rs45487298 |
| LitVar | rs45487298 |
| Map | rs45487298 |
| PheGenI | rs45487298 |
| Biobank | rs45487298 |
| 1000 genomes | rs45487298 |
| hgdp | rs45487298 |
| ensembl | rs45487298 |
| geneview | rs45487298 |
| scholar | rs45487298 |
| rs45487298 | |
| pharmgkb | rs45487298 |
| gwascentral | rs45487298 |
| openSNP | rs45487298 |
| 23andMe | rs45487298 |
| SNPshot | rs45487298 |
| SNPdbe | rs45487298 |
| MSV3d | rs45487298 |
| GWAS Ctlg | rs45487298 |
| Max Magnitude | 0 |
[PMID 21117953] Optimization of High-Resolution Melting Analysis for Simultaneous Genotyping of Two 11?-Hydroxysteroid Dehydrogenase Type 1 Gene Polymorphisms
| ClinVar | |
|---|---|
| Risk | Rs45487298(A;A) rs45487298(G;G) |
| Alt | Rs45487298(A;A) rs45487298(G;G) |
| Reference | Rs45487298(-;-) |
| Significance | Unknown |
| Disease | Cortisone reductase deficiency 2 |
| Variation | info |
| Gene | LOC101930114 HSD11B1 |
| CLNDBN | Cortisone reductase deficiency 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.209880218dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009466.2, |
[PMID 26671915] Association between ins4436A in 11β-hydroxysteroid dehydrogenase type 1 gene and essential hypertension in Polish population.
