rs281875221
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs281875221(G;T) |
| Make rs281875221(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 60887479 |
| Gene | ERCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281875221 |
| dbSNP (classic) | rs281875221 |
| ClinGen | rs281875221 |
| ebi | rs281875221 |
| HLI | rs281875221 |
| Exac | rs281875221 |
| Gnomad | rs281875221 |
| Varsome | rs281875221 |
| LitVar | rs281875221 |
| Map | rs281875221 |
| PheGenI | rs281875221 |
| Biobank | rs281875221 |
| 1000 genomes | rs281875221 |
| hgdp | rs281875221 |
| ensembl | rs281875221 |
| geneview | rs281875221 |
| scholar | rs281875221 |
| rs281875221 | |
| pharmgkb | rs281875221 |
| gwascentral | rs281875221 |
| openSNP | rs281875221 |
| 23andMe | rs281875221 |
| SNPshot | rs281875221 |
| SNPdbe | rs281875221 |
| MSV3d | rs281875221 |
| GWAS Ctlg | rs281875221 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281875221(T;T) |
| Alt | rs281875221(T;T) |
| Reference | Rs281875221(G;G) |
| Significance | Pathogenic |
| Disease | UV-sensitive syndrome 2 not provided |
| Variation | info |
| Gene | ERCC8 |
| CLNDBN | UV-sensitive syndrome 2 not provided |
| Reversed | 1 |
| HGVS | NC_000005.9:g.60183306C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000024268.2, RCV000059645.1, |
