rs765825423
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CT;CT) | 0 | common in clinvar |
| Make rs765825423(-;-) |
| Make rs765825423(-;CT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 49461382 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765825423 |
| dbSNP (classic) | rs765825423 |
| ClinGen | rs765825423 |
| ebi | rs765825423 |
| HLI | rs765825423 |
| Exac | rs765825423 |
| Gnomad | rs765825423 |
| Varsome | rs765825423 |
| LitVar | rs765825423 |
| Map | rs765825423 |
| PheGenI | rs765825423 |
| Biobank | rs765825423 |
| 1000 genomes | rs765825423 |
| hgdp | rs765825423 |
| ensembl | rs765825423 |
| geneview | rs765825423 |
| scholar | rs765825423 |
| rs765825423 | |
| pharmgkb | rs765825423 |
| gwascentral | rs765825423 |
| openSNP | rs765825423 |
| 23andMe | rs765825423 |
| SNPshot | rs765825423 |
| SNPdbe | rs765825423 |
| MSV3d | rs765825423 |
| GWAS Ctlg | rs765825423 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765825423(-;-) |
| Alt | rs765825423(-;-) |
| Reference | Rs765825423(CT;CT) |
| Significance | Probable-Pathogenic |
| Disease | Cockayne syndrome B |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Cockayne syndrome B |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50669428_50669429delCT |
| CLNSRC | |
| CLNACC | RCV000170390.1, |
