rs4539
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs4539(A;G) |
| Make rs4539(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142915123 |
| Gene | CYP11B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4539 |
| dbSNP (classic) | rs4539 |
| ClinGen | rs4539 |
| ebi | rs4539 |
| HLI | rs4539 |
| Exac | rs4539 |
| Gnomad | rs4539 |
| Varsome | rs4539 |
| LitVar | rs4539 |
| Map | rs4539 |
| PheGenI | rs4539 |
| Biobank | rs4539 |
| 1000 genomes | rs4539 |
| hgdp | rs4539 |
| ensembl | rs4539 |
| geneview | rs4539 |
| scholar | rs4539 |
| rs4539 | |
| pharmgkb | rs4539 |
| gwascentral | rs4539 |
| openSNP | rs4539 |
| 23andMe | rs4539 |
| SNPshot | rs4539 |
| SNPdbe | rs4539 |
| MSV3d | rs4539 |
| GWAS Ctlg | rs4539 |
| GMAF | 0.3632 |
| 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 20339375] Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.
| ClinVar | |
|---|---|
| Risk | rs4539(G;G) |
| Alt | rs4539(G;G) |
| Reference | Rs4539(A;A) |
| Significance | Non-pathogenic |
| Disease | Corticosterone methyloxidase type 1 deficiency Hyperaldosteronism Corticosterone methyloxidase type 2 deficiency |
| Variation | info |
| Gene | CYP11B2 |
| CLNDBN | Corticosterone methyloxidase type 1 deficiency Hyperaldosteronism, familial, type I Corticosterone methyloxidase type 2 deficiency |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143996539T>C |
| CLNSRC | |
| CLNACC | RCV000269208.1, RCV000307908.1, RCV000366140.1, |
