rs368728467
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs368728467(A;G) |
| Make rs368728467(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 49474074 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368728467 |
| dbSNP (classic) | rs368728467 |
| ClinGen | rs368728467 |
| ebi | rs368728467 |
| HLI | rs368728467 |
| Exac | rs368728467 |
| Gnomad | rs368728467 |
| Varsome | rs368728467 |
| LitVar | rs368728467 |
| Map | rs368728467 |
| PheGenI | rs368728467 |
| Biobank | rs368728467 |
| 1000 genomes | rs368728467 |
| hgdp | rs368728467 |
| ensembl | rs368728467 |
| geneview | rs368728467 |
| scholar | rs368728467 |
| rs368728467 | |
| pharmgkb | rs368728467 |
| gwascentral | rs368728467 |
| openSNP | rs368728467 |
| 23andMe | rs368728467 |
| SNPshot | rs368728467 |
| SNPdbe | rs368728467 |
| MSV3d | rs368728467 |
| GWAS Ctlg | rs368728467 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368728467(G;G) |
| Alt | rs368728467(G;G) |
| Reference | Rs368728467(A;A) |
| Significance | Pathogenic |
| Disease | Cockayne syndrome B |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Cockayne syndrome B |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50682120A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000195010.1, |
