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, |
