rs886039884
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs886039884(-;-) |
| Make rs886039884(-;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 15 |
| Position | 48234952 |
| Gene | SLC12A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886039884 |
| dbSNP (classic) | rs886039884 |
| ClinGen | rs886039884 |
| ebi | rs886039884 |
| HLI | rs886039884 |
| Exac | rs886039884 |
| Gnomad | rs886039884 |
| Varsome | rs886039884 |
| LitVar | rs886039884 |
| Map | rs886039884 |
| PheGenI | rs886039884 |
| Biobank | rs886039884 |
| 1000 genomes | rs886039884 |
| hgdp | rs886039884 |
| ensembl | rs886039884 |
| geneview | rs886039884 |
| scholar | rs886039884 |
| rs886039884 | |
| pharmgkb | rs886039884 |
| gwascentral | rs886039884 |
| openSNP | rs886039884 |
| 23andMe | rs886039884 |
| SNPshot | rs886039884 |
| SNPdbe | rs886039884 |
| MSV3d | rs886039884 |
| GWAS Ctlg | rs886039884 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886039884(-;-) |
| Alt | rs886039884(-;-) |
| Reference | Rs886039884(T;T) |
| Significance | Pathogenic |
| Disease | Bartter syndrome |
| Variation | info |
| Gene | SLC12A1 |
| CLNDBN | Bartter syndrome, type 1, antenatal |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48527149delT |
| CLNSRC | |
| CLNACC | RCV000256407.1, |
