rs202080674
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs202080674(A;A) |
| Make rs202080674(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 49482848 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202080674 |
| dbSNP (classic) | rs202080674 |
| ClinGen | rs202080674 |
| ebi | rs202080674 |
| HLI | rs202080674 |
| Exac | rs202080674 |
| Gnomad | rs202080674 |
| Varsome | rs202080674 |
| LitVar | rs202080674 |
| Map | rs202080674 |
| PheGenI | rs202080674 |
| Biobank | rs202080674 |
| 1000 genomes | rs202080674 |
| hgdp | rs202080674 |
| ensembl | rs202080674 |
| geneview | rs202080674 |
| scholar | rs202080674 |
| rs202080674 | |
| pharmgkb | rs202080674 |
| gwascentral | rs202080674 |
| openSNP | rs202080674 |
| 23andMe | rs202080674 |
| SNPshot | rs202080674 |
| SNPdbe | rs202080674 |
| MSV3d | rs202080674 |
| GWAS Ctlg | rs202080674 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202080674(A;A) |
| Alt | rs202080674(A;A) |
| Reference | Rs202080674(G;G) |
| Significance | Pathogenic |
| Disease | Cockayne syndrome B |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Cockayne syndrome B |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50690894G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000170376.1, |
