rs140012781
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140012781(C;T) |
| Make rs140012781(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 56886366 |
| Gene | SLC12A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140012781 |
| dbSNP (classic) | rs140012781 |
| ClinGen | rs140012781 |
| ebi | rs140012781 |
| HLI | rs140012781 |
| Exac | rs140012781 |
| Gnomad | rs140012781 |
| Varsome | rs140012781 |
| LitVar | rs140012781 |
| Map | rs140012781 |
| PheGenI | rs140012781 |
| Biobank | rs140012781 |
| 1000 genomes | rs140012781 |
| hgdp | rs140012781 |
| ensembl | rs140012781 |
| geneview | rs140012781 |
| scholar | rs140012781 |
| rs140012781 | |
| pharmgkb | rs140012781 |
| gwascentral | rs140012781 |
| openSNP | rs140012781 |
| 23andMe | rs140012781 |
| SNPshot | rs140012781 |
| SNPdbe | rs140012781 |
| MSV3d | rs140012781 |
| GWAS Ctlg | rs140012781 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140012781(T;T) |
| Alt | rs140012781(T;T) |
| Reference | Rs140012781(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypokalemia-hypomagnesemia not specified |
| Variation | info |
| Gene | SLC12A3 |
| CLNDBN | Familial hypokalemia-hypomagnesemia not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.56920278C>T |
| CLNSRC | |
| CLNACC | RCV000477915.1, RCV000478620.1, |
