rs193922539
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922539(A;A) |
| Make rs193922539(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142879163 |
| Gene | CYP11B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922539 |
| dbSNP (classic) | rs193922539 |
| ClinGen | rs193922539 |
| ebi | rs193922539 |
| HLI | rs193922539 |
| Exac | rs193922539 |
| Gnomad | rs193922539 |
| Varsome | rs193922539 |
| LitVar | rs193922539 |
| Map | rs193922539 |
| PheGenI | rs193922539 |
| Biobank | rs193922539 |
| 1000 genomes | rs193922539 |
| hgdp | rs193922539 |
| ensembl | rs193922539 |
| geneview | rs193922539 |
| scholar | rs193922539 |
| rs193922539 | |
| pharmgkb | rs193922539 |
| gwascentral | rs193922539 |
| openSNP | rs193922539 |
| 23andMe | rs193922539 |
| SNPshot | rs193922539 |
| SNPdbe | rs193922539 |
| MSV3d | rs193922539 |
| GWAS Ctlg | rs193922539 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922539(A;A) |
| Alt | rs193922539(A;A) |
| Reference | Rs193922539(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Congenital adrenal hyperplasia |
| Variation | info |
| Gene | CYP11B1 |
| CLNDBN | Congenital adrenal hyperplasia |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143960579C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029645.1, |
[PMID 20089618
] Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
