rs774515747
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs774515747(A;G) |
| Make rs774515747(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 48226575 |
| Gene | LOC105370807, SLC12A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774515747 |
| dbSNP (classic) | rs774515747 |
| ClinGen | rs774515747 |
| ebi | rs774515747 |
| HLI | rs774515747 |
| Exac | rs774515747 |
| Gnomad | rs774515747 |
| Varsome | rs774515747 |
| LitVar | rs774515747 |
| Map | rs774515747 |
| PheGenI | rs774515747 |
| Biobank | rs774515747 |
| 1000 genomes | rs774515747 |
| hgdp | rs774515747 |
| ensembl | rs774515747 |
| geneview | rs774515747 |
| scholar | rs774515747 |
| rs774515747 | |
| pharmgkb | rs774515747 |
| gwascentral | rs774515747 |
| openSNP | rs774515747 |
| 23andMe | rs774515747 |
| SNPshot | rs774515747 |
| SNPdbe | rs774515747 |
| MSV3d | rs774515747 |
| GWAS Ctlg | rs774515747 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774515747(G;G) rs774515747(T;T) |
| Alt | rs774515747(G;G) rs774515747(T;T) |
| Reference | Rs774515747(A;A) |
| Significance | Pathogenic |
| Disease | Bartter syndrome |
| Variation | info |
| Gene | SLC12A1 |
| CLNDBN | Bartter syndrome, type 1, antenatal |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48518772A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009298.4, |
