rs765347751
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs765347751(A;A) |
| Make rs765347751(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 48246978 |
| Gene | LOC107984758, SLC12A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765347751 |
| dbSNP (classic) | rs765347751 |
| ClinGen | rs765347751 |
| ebi | rs765347751 |
| HLI | rs765347751 |
| Exac | rs765347751 |
| Gnomad | rs765347751 |
| Varsome | rs765347751 |
| LitVar | rs765347751 |
| Map | rs765347751 |
| PheGenI | rs765347751 |
| Biobank | rs765347751 |
| 1000 genomes | rs765347751 |
| hgdp | rs765347751 |
| ensembl | rs765347751 |
| geneview | rs765347751 |
| scholar | rs765347751 |
| rs765347751 | |
| pharmgkb | rs765347751 |
| gwascentral | rs765347751 |
| openSNP | rs765347751 |
| 23andMe | rs765347751 |
| SNPshot | rs765347751 |
| SNPdbe | rs765347751 |
| MSV3d | rs765347751 |
| GWAS Ctlg | rs765347751 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765347751(A;A) |
| Alt | rs765347751(A;A) |
| Reference | Rs765347751(G;G) |
| Significance | Pathogenic |
| Disease | Bartter syndrome |
| Variation | info |
| Gene | SLC12A1 |
| CLNDBN | Bartter syndrome, type 1, antenatal |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48539175G>A |
| CLNSRC | |
| CLNACC | RCV000200351.1, |
