rs878854407
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs878854407(C;T) |
| Make rs878854407(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 54814725 |
| Gene | MAGED2, SNORA11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878854407 |
| dbSNP (classic) | rs878854407 |
| ClinGen | rs878854407 |
| ebi | rs878854407 |
| HLI | rs878854407 |
| Exac | rs878854407 |
| Gnomad | rs878854407 |
| Varsome | rs878854407 |
| LitVar | rs878854407 |
| Map | rs878854407 |
| PheGenI | rs878854407 |
| Biobank | rs878854407 |
| 1000 genomes | rs878854407 |
| hgdp | rs878854407 |
| ensembl | rs878854407 |
| geneview | rs878854407 |
| scholar | rs878854407 |
| rs878854407 | |
| pharmgkb | rs878854407 |
| gwascentral | rs878854407 |
| openSNP | rs878854407 |
| 23andMe | rs878854407 |
| SNPshot | rs878854407 |
| SNPdbe | rs878854407 |
| MSV3d | rs878854407 |
| GWAS Ctlg | rs878854407 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs878854407(T;T) |
| Alt | rs878854407(T;T) |
| Reference | Rs878854407(C;C) |
| Significance | Pathogenic |
| Disease | Bartter syndrome |
| Variation | info |
| Gene | SNORA11 MAGED2 |
| CLNDBN | Bartter syndrome, type 5, antenatal, transient |
| Reversed | 0 |
| HGVS | NC_000023.10:g.54841158C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000211522.2, |
