rs527236039
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs527236039(-;-) |
| Make rs527236039(-;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 49530716 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs527236039 |
| dbSNP (classic) | rs527236039 |
| ClinGen | rs527236039 |
| ebi | rs527236039 |
| HLI | rs527236039 |
| Exac | rs527236039 |
| Gnomad | rs527236039 |
| Varsome | rs527236039 |
| LitVar | rs527236039 |
| Map | rs527236039 |
| PheGenI | rs527236039 |
| Biobank | rs527236039 |
| 1000 genomes | rs527236039 |
| hgdp | rs527236039 |
| ensembl | rs527236039 |
| geneview | rs527236039 |
| scholar | rs527236039 |
| rs527236039 | |
| pharmgkb | rs527236039 |
| gwascentral | rs527236039 |
| openSNP | rs527236039 |
| 23andMe | rs527236039 |
| SNPshot | rs527236039 |
| SNPdbe | rs527236039 |
| MSV3d | rs527236039 |
| GWAS Ctlg | rs527236039 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs527236039(-;-) |
| Alt | rs527236039(-;-) |
| Reference | Rs527236039(A;A) |
| Significance | Pathogenic |
| Disease | Cockayne syndrome B |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Cockayne syndrome B |
| Reversed | 1 |
| HGVS | NC_000010.10:g.50738762delT |
| CLNSRC | ClinVar |
| CLNACC | RCV000132720.1, |
