rs6387
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6387(A;A) |
| Make rs6387(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142877011 |
| Gene | CYP11B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6387 |
| dbSNP (classic) | rs6387 |
| ClinGen | rs6387 |
| ebi | rs6387 |
| HLI | rs6387 |
| Exac | rs6387 |
| Gnomad | rs6387 |
| Varsome | rs6387 |
| LitVar | rs6387 |
| Map | rs6387 |
| PheGenI | rs6387 |
| Biobank | rs6387 |
| 1000 genomes | rs6387 |
| hgdp | rs6387 |
| ensembl | rs6387 |
| geneview | rs6387 |
| scholar | rs6387 |
| rs6387 | |
| pharmgkb | rs6387 |
| gwascentral | rs6387 |
| openSNP | rs6387 |
| 23andMe | rs6387 |
| SNPshot | rs6387 |
| SNPdbe | rs6387 |
| MSV3d | rs6387 |
| GWAS Ctlg | rs6387 |
| GMAF | 0.4426 |
| Max Magnitude | 0 |
[PMID 20708777] Association of DNA Polymorphisms Within the CYP11B2/CYP11B1 Locus and Postoperative Hypertension Risk in the Patients With Aldosterone-producing Adenomas
[PMID 16984984] Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene.
[PMID 20339375] Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.
| ClinVar | |
|---|---|
| Risk | rs6387(A;A) rs6387(C;C) |
| Alt | rs6387(A;A) rs6387(C;C) |
| Reference | Rs6387(G;G) |
| Significance | Non-pathogenic |
| Disease | Congenital adrenal hyperplasia Hyperaldosteronism |
| Variation | info |
| Gene | CYP11B1 |
| CLNDBN | Congenital adrenal hyperplasia Hyperaldosteronism, familial, type I |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143958427C>T |
| CLNSRC | |
| CLNACC | RCV000266926.1, RCV000359290.1, |
