rs373227647
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs373227647(C;C) |
| Make rs373227647(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 49472472 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373227647 |
| dbSNP (classic) | rs373227647 |
| ClinGen | rs373227647 |
| ebi | rs373227647 |
| HLI | rs373227647 |
| Exac | rs373227647 |
| Gnomad | rs373227647 |
| Varsome | rs373227647 |
| LitVar | rs373227647 |
| Map | rs373227647 |
| PheGenI | rs373227647 |
| Biobank | rs373227647 |
| 1000 genomes | rs373227647 |
| hgdp | rs373227647 |
| ensembl | rs373227647 |
| geneview | rs373227647 |
| scholar | rs373227647 |
| rs373227647 | |
| pharmgkb | rs373227647 |
| gwascentral | rs373227647 |
| openSNP | rs373227647 |
| 23andMe | rs373227647 |
| SNPshot | rs373227647 |
| SNPdbe | rs373227647 |
| MSV3d | rs373227647 |
| GWAS Ctlg | rs373227647 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373227647(C;C) |
| Alt | rs373227647(C;C) |
| Reference | Rs373227647(T;T) |
| Significance | Pathogenic |
| Disease | Cockayne syndrome B not provided |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Cockayne syndrome B not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50680518T>C |
| CLNSRC | |
| CLNACC | RCV000170381.1, RCV000397640.1, |
