rs762309206
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTCA;CTCA) | 0 | common in clinvar |
| Make rs762309206(-;-) |
| Make rs762309206(-;CTCA) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 45364833 |
| Gene | ERCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762309206 |
| dbSNP (classic) | rs762309206 |
| ClinGen | rs762309206 |
| ebi | rs762309206 |
| HLI | rs762309206 |
| Exac | rs762309206 |
| Gnomad | rs762309206 |
| Varsome | rs762309206 |
| LitVar | rs762309206 |
| Map | rs762309206 |
| PheGenI | rs762309206 |
| Biobank | rs762309206 |
| 1000 genomes | rs762309206 |
| hgdp | rs762309206 |
| ensembl | rs762309206 |
| geneview | rs762309206 |
| scholar | rs762309206 |
| rs762309206 | |
| pharmgkb | rs762309206 |
| gwascentral | rs762309206 |
| openSNP | rs762309206 |
| 23andMe | rs762309206 |
| SNPshot | rs762309206 |
| SNPdbe | rs762309206 |
| MSV3d | rs762309206 |
| GWAS Ctlg | rs762309206 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs762309206(-;-) |
| Alt | rs762309206(-;-) |
| Reference | Rs762309206(CTCA;CTCA) |
| Significance | Probable-Pathogenic |
| Disease | Xeroderma pigmentosum Trichothiodystrophy 1 |
| Variation | info |
| Gene | ERCC2 |
| CLNDBN | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45868091_45868094delCTCA |
| CLNSRC | |
| CLNACC | RCV000454224.1, RCV000454337.1, |
