rs200697179
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200697179(C;T) |
| Make rs200697179(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 56885363 |
| Gene | SLC12A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200697179 |
| dbSNP (classic) | rs200697179 |
| ClinGen | rs200697179 |
| ebi | rs200697179 |
| HLI | rs200697179 |
| Exac | rs200697179 |
| Gnomad | rs200697179 |
| Varsome | rs200697179 |
| LitVar | rs200697179 |
| Map | rs200697179 |
| PheGenI | rs200697179 |
| Biobank | rs200697179 |
| 1000 genomes | rs200697179 |
| hgdp | rs200697179 |
| ensembl | rs200697179 |
| geneview | rs200697179 |
| scholar | rs200697179 |
| rs200697179 | |
| pharmgkb | rs200697179 |
| gwascentral | rs200697179 |
| openSNP | rs200697179 |
| 23andMe | rs200697179 |
| SNPshot | rs200697179 |
| SNPdbe | rs200697179 |
| MSV3d | rs200697179 |
| GWAS Ctlg | rs200697179 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200697179(G;G) rs200697179(T;T) |
| Alt | rs200697179(G;G) rs200697179(T;T) |
| Reference | Rs200697179(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypokalemia-hypomagnesemia |
| Variation | info |
| Gene | SLC12A3 |
| CLNDBN | Familial hypokalemia-hypomagnesemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.56919275C>G |
| CLNSRC | |
| CLNACC | RCV000449562.1, |
