rs780027419
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs780027419(C;G) |
| Make rs780027419(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | X |
| Position | 83509201 |
| Gene | POU3F4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780027419 |
| dbSNP (classic) | rs780027419 |
| ClinGen | rs780027419 |
| ebi | rs780027419 |
| HLI | rs780027419 |
| Exac | rs780027419 |
| Gnomad | rs780027419 |
| Varsome | rs780027419 |
| LitVar | rs780027419 |
| Map | rs780027419 |
| PheGenI | rs780027419 |
| Biobank | rs780027419 |
| 1000 genomes | rs780027419 |
| hgdp | rs780027419 |
| ensembl | rs780027419 |
| geneview | rs780027419 |
| scholar | rs780027419 |
| rs780027419 | |
| pharmgkb | rs780027419 |
| gwascentral | rs780027419 |
| openSNP | rs780027419 |
| 23andMe | rs780027419 |
| SNPshot | rs780027419 |
| SNPdbe | rs780027419 |
| MSV3d | rs780027419 |
| GWAS Ctlg | rs780027419 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780027419(G;G) rs780027419(T;T) |
| Alt | rs780027419(G;G) rs780027419(T;T) |
| Reference | Rs780027419(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | POU3F4 |
| CLNDBN | Deafness, X-linked 2 |
| Reversed | 0 |
| HGVS | NC_000023.10:g.82764209C>G |
| CLNSRC | |
| CLNACC | RCV000474747.1, |
