rs201255508
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201255508(C;T) |
| Make rs201255508(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 16 |
| Position | 56865482 |
| Gene | SLC12A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201255508 |
| dbSNP (classic) | rs201255508 |
| ClinGen | rs201255508 |
| ebi | rs201255508 |
| HLI | rs201255508 |
| Exac | rs201255508 |
| Gnomad | rs201255508 |
| Varsome | rs201255508 |
| LitVar | rs201255508 |
| Map | rs201255508 |
| PheGenI | rs201255508 |
| Biobank | rs201255508 |
| 1000 genomes | rs201255508 |
| hgdp | rs201255508 |
| ensembl | rs201255508 |
| geneview | rs201255508 |
| scholar | rs201255508 |
| rs201255508 | |
| pharmgkb | rs201255508 |
| gwascentral | rs201255508 |
| openSNP | rs201255508 |
| 23andMe | rs201255508 |
| SNPshot | rs201255508 |
| SNPdbe | rs201255508 |
| MSV3d | rs201255508 |
| GWAS Ctlg | rs201255508 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201255508(T;T) |
| Alt | rs201255508(T;T) |
| Reference | Rs201255508(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypokalemia-hypomagnesemia |
| Variation | info |
| Gene | SLC12A3 |
| CLNDBN | Familial hypokalemia-hypomagnesemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.56899394C>T |
| CLNSRC | Illumina |
| CLNACC | RCV000380828.1, |
