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, | 


