rs185212943
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs185212943(C;C) |
| Make rs185212943(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 128839982 |
| Gene | KCNJ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs185212943 |
| dbSNP (classic) | rs185212943 |
| ClinGen | rs185212943 |
| ebi | rs185212943 |
| HLI | rs185212943 |
| Exac | rs185212943 |
| Gnomad | rs185212943 |
| Varsome | rs185212943 |
| LitVar | rs185212943 |
| Map | rs185212943 |
| PheGenI | rs185212943 |
| Biobank | rs185212943 |
| 1000 genomes | rs185212943 |
| hgdp | rs185212943 |
| ensembl | rs185212943 |
| geneview | rs185212943 |
| scholar | rs185212943 |
| rs185212943 | |
| pharmgkb | rs185212943 |
| gwascentral | rs185212943 |
| openSNP | rs185212943 |
| 23andMe | rs185212943 |
| SNPshot | rs185212943 |
| SNPdbe | rs185212943 |
| MSV3d | rs185212943 |
| GWAS Ctlg | rs185212943 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs185212943(A;A) rs185212943(C;C) |
| Alt | rs185212943(A;A) rs185212943(C;C) |
| Reference | Rs185212943(T;T) |
| Significance | Pathogenic |
| Disease | Bartter syndrome not provided Antenatal Bartter Syndrome |
| Variation | info |
| Gene | KCNJ1 |
| CLNDBN | Bartter syndrome, type 2, antenatal not provided Antenatal Bartter Syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.128709877T>A; NC_000011.9:g.128709877T>C |
| CLNSRC | |
| CLNACC | RCV000414946.1, RCV000054579.1, RCV000356282.1, |
