rs371739894
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs371739894(A;A) |
| Make rs371739894(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 49505883 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371739894 |
| dbSNP (classic) | rs371739894 |
| ClinGen | rs371739894 |
| ebi | rs371739894 |
| HLI | rs371739894 |
| Exac | rs371739894 |
| Gnomad | rs371739894 |
| Varsome | rs371739894 |
| LitVar | rs371739894 |
| Map | rs371739894 |
| PheGenI | rs371739894 |
| Biobank | rs371739894 |
| 1000 genomes | rs371739894 |
| hgdp | rs371739894 |
| ensembl | rs371739894 |
| geneview | rs371739894 |
| scholar | rs371739894 |
| rs371739894 | |
| pharmgkb | rs371739894 |
| gwascentral | rs371739894 |
| openSNP | rs371739894 |
| 23andMe | rs371739894 |
| SNPshot | rs371739894 |
| SNPdbe | rs371739894 |
| MSV3d | rs371739894 |
| GWAS Ctlg | rs371739894 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs371739894(A;A) |
| Alt | rs371739894(A;A) |
| Reference | Rs371739894(C;C) |
| Significance | Pathogenic |
| Disease | Cockayne syndrome B |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Cockayne syndrome B |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50713929C>A |
| CLNSRC | |
| CLNACC | RCV000170365.2, |
