rs863224920
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs863224920(C;G) |
| Make rs863224920(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 48229199 |
| Gene | LOC105370807, SLC12A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224920 |
| dbSNP (classic) | rs863224920 |
| ClinGen | rs863224920 |
| ebi | rs863224920 |
| HLI | rs863224920 |
| Exac | rs863224920 |
| Gnomad | rs863224920 |
| Varsome | rs863224920 |
| LitVar | rs863224920 |
| Map | rs863224920 |
| PheGenI | rs863224920 |
| Biobank | rs863224920 |
| 1000 genomes | rs863224920 |
| hgdp | rs863224920 |
| ensembl | rs863224920 |
| geneview | rs863224920 |
| scholar | rs863224920 |
| rs863224920 | |
| pharmgkb | rs863224920 |
| gwascentral | rs863224920 |
| openSNP | rs863224920 |
| 23andMe | rs863224920 |
| SNPshot | rs863224920 |
| SNPdbe | rs863224920 |
| MSV3d | rs863224920 |
| GWAS Ctlg | rs863224920 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863224920(G;G) |
| Alt | rs863224920(G;G) |
| Reference | Rs863224920(C;C) |
| Significance | Pathogenic |
| Disease | Bartter syndrome |
| Variation | info |
| Gene | SLC12A1 |
| CLNDBN | Bartter syndrome, type 1, antenatal |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48521396C>G |
| CLNSRC | |
| CLNACC | RCV000200351.1, |
