rs104894070
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894070(C;T) |
| Make rs104894070(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142879146 |
| Gene | CYP11B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894070 |
| dbSNP (classic) | rs104894070 |
| ClinGen | rs104894070 |
| ebi | rs104894070 |
| HLI | rs104894070 |
| Exac | rs104894070 |
| Gnomad | rs104894070 |
| Varsome | rs104894070 |
| LitVar | rs104894070 |
| Map | rs104894070 |
| PheGenI | rs104894070 |
| Biobank | rs104894070 |
| 1000 genomes | rs104894070 |
| hgdp | rs104894070 |
| ensembl | rs104894070 |
| geneview | rs104894070 |
| scholar | rs104894070 |
| rs104894070 | |
| pharmgkb | rs104894070 |
| gwascentral | rs104894070 |
| openSNP | rs104894070 |
| 23andMe | rs104894070 |
| SNPshot | rs104894070 |
| SNPdbe | rs104894070 |
| MSV3d | rs104894070 |
| GWAS Ctlg | rs104894070 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894070(A;A) rs104894070(T;T) |
| Alt | rs104894070(A;A) rs104894070(T;T) |
| Reference | Rs104894070(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.143960562G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001245.2, RCV000029646.2, |
[PMID 16046588] 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
[PMID 16670167] Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
[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.
[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.
