rs758439420
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs758439420(A;A) | 
| Make rs758439420(A;C) | 
| Reference | GRCh38.p7 38.3/149 | 
| Chromosome | 19 | 
| Position | 45352351 | 
| Gene | ERCC2 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs758439420 | 
| dbSNP (classic) | rs758439420 | 
| ClinGen | rs758439420 | 
| ebi | rs758439420 | 
| HLI | rs758439420 | 
| Exac | rs758439420 | 
| Gnomad | rs758439420 | 
| Varsome | rs758439420 | 
| LitVar | rs758439420 | 
| Map | rs758439420 | 
| PheGenI | rs758439420 | 
| Biobank | rs758439420 | 
| 1000 genomes | rs758439420 | 
| hgdp | rs758439420 | 
| ensembl | rs758439420 | 
| geneview | rs758439420 | 
| scholar | rs758439420 | 
| rs758439420 | |
| pharmgkb | rs758439420 | 
| gwascentral | rs758439420 | 
| openSNP | rs758439420 | 
| 23andMe | rs758439420 | 
| SNPshot | rs758439420 | 
| SNPdbe | rs758439420 | 
| MSV3d | rs758439420 | 
| GWAS Ctlg | rs758439420 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs758439420(A;A) rs758439420(T;T) | 
| Alt | rs758439420(A;A) rs758439420(T;T) | 
| Reference | Rs758439420(C;C) | 
| Significance | Pathogenic | 
| Disease | Xeroderma pigmentosum | 
| Variation | info | 
| Gene | ERCC2 | 
| CLNDBN | Xeroderma pigmentosum, group D | 
| Reversed | 0 | 
| HGVS | NC_000019.9:g.45855609C>T | 
| CLNSRC | |
| CLNACC | RCV000248679.1, | 


