rs104894069
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894069(C;T) |
| Make rs104894069(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142879690 |
| Gene | CYP11B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894069 |
| dbSNP (classic) | rs104894069 |
| ClinGen | rs104894069 |
| ebi | rs104894069 |
| HLI | rs104894069 |
| Exac | rs104894069 |
| Gnomad | rs104894069 |
| Varsome | rs104894069 |
| LitVar | rs104894069 |
| Map | rs104894069 |
| PheGenI | rs104894069 |
| Biobank | rs104894069 |
| 1000 genomes | rs104894069 |
| hgdp | rs104894069 |
| ensembl | rs104894069 |
| geneview | rs104894069 |
| scholar | rs104894069 |
| rs104894069 | |
| pharmgkb | rs104894069 |
| gwascentral | rs104894069 |
| openSNP | rs104894069 |
| 23andMe | rs104894069 |
| SNPshot | rs104894069 |
| SNPdbe | rs104894069 |
| MSV3d | rs104894069 |
| GWAS Ctlg | rs104894069 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894069(T;T) |
| Alt | rs104894069(T;T) |
| Reference | Rs104894069(C;C) |
| Significance | Pathogenic |
| Disease | Deficiency of steroid 11-beta-monooxygenase Congenital adrenal hyperplasia |
| Variation | info |
| Gene | CYP11B1 |
| CLNDBN | Deficiency of steroid 11-beta-monooxygenase Congenital adrenal hyperplasia |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143961106G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001238.2, RCV000029642.2, |
[PMID 124524] [The water supply of SPF animal houses. I. Methods for the hygienic improvement of drinking water. II. Suitability of various filtration systems for water sterilization].
[PMID 9302260] CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
[PMID 11154148] Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
[PMID 11344939] Steroid 11 beta-hydroxylase deficiency and related disorders.
[PMID 17172090] Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.
[PMID 19204079] A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.
