rs28934586
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a congenital adrenal hyperplasia mutation |
| (G;G) | 0 | common in clinvar |
| Make rs28934586(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142875012 |
| Gene | CYP11B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934586 |
| dbSNP (classic) | rs28934586 |
| ClinGen | rs28934586 |
| ebi | rs28934586 |
| HLI | rs28934586 |
| Exac | rs28934586 |
| Gnomad | rs28934586 |
| Varsome | rs28934586 |
| LitVar | rs28934586 |
| Map | rs28934586 |
| PheGenI | rs28934586 |
| Biobank | rs28934586 |
| 1000 genomes | rs28934586 |
| hgdp | rs28934586 |
| ensembl | rs28934586 |
| geneview | rs28934586 |
| scholar | rs28934586 |
| rs28934586 | |
| pharmgkb | rs28934586 |
| gwascentral | rs28934586 |
| openSNP | rs28934586 |
| 23andMe | rs28934586 |
| SNPshot | rs28934586 |
| SNPdbe | rs28934586 |
| MSV3d | rs28934586 |
| GWAS Ctlg | rs28934586 |
| Max Magnitude | 3 |
aka c.1343G>A (p.Arg448His or R448H)
| ClinVar | |
|---|---|
| Risk | rs28934586(A;A) |
| Alt | rs28934586(A;A) |
| Reference | Rs28934586(G;G) |
| Significance | Pathogenic |
| Disease | Deficiency of steroid 11-beta-monooxygenase |
| Variation | info |
| Gene | CYP11B1 |
| CLNDBN | Deficiency of steroid 11-beta-monooxygenase |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143956428C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001230.2, |
