rs386352319
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386352319(C;C) |
| Make rs386352319(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 128911724 |
| Gene | KCNJ5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386352319 |
| dbSNP (classic) | rs386352319 |
| ClinGen | rs386352319 |
| ebi | rs386352319 |
| HLI | rs386352319 |
| Exac | rs386352319 |
| Gnomad | rs386352319 |
| Varsome | rs386352319 |
| LitVar | rs386352319 |
| Map | rs386352319 |
| PheGenI | rs386352319 |
| Biobank | rs386352319 |
| 1000 genomes | rs386352319 |
| hgdp | rs386352319 |
| ensembl | rs386352319 |
| geneview | rs386352319 |
| scholar | rs386352319 |
| rs386352319 | |
| pharmgkb | rs386352319 |
| gwascentral | rs386352319 |
| openSNP | rs386352319 |
| 23andMe | rs386352319 |
| SNPshot | rs386352319 |
| SNPdbe | rs386352319 |
| MSV3d | rs386352319 |
| GWAS Ctlg | rs386352319 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386352319(A;A) rs386352319(C;C) |
| Alt | rs386352319(A;A) rs386352319(C;C) |
| Reference | Rs386352319(G;G) |
| Significance | Pathogenic |
| Disease | not provided Aldosterone-producing adrenal adenoma Familial hyperaldosteronism type 3 |
| Variation | info |
| Gene | KCNJ5 |
| CLNDBN | not provided Aldosterone-producing adrenal adenoma, somatic Familial hyperaldosteronism type 3 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.128781619G>A; NC_000011.9:g.128781619G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000122472.1, RCV000122749.5, RCV000122750.3, RCV000122473.1, |
