rs199754807
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199754807(C;G) |
| Make rs199754807(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 60945369 |
| Gene | ERCC8, NDUFAF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199754807 |
| dbSNP (classic) | rs199754807 |
| ClinGen | rs199754807 |
| ebi | rs199754807 |
| HLI | rs199754807 |
| Exac | rs199754807 |
| Gnomad | rs199754807 |
| Varsome | rs199754807 |
| LitVar | rs199754807 |
| Map | rs199754807 |
| PheGenI | rs199754807 |
| Biobank | rs199754807 |
| 1000 genomes | rs199754807 |
| hgdp | rs199754807 |
| ensembl | rs199754807 |
| geneview | rs199754807 |
| scholar | rs199754807 |
| rs199754807 | |
| pharmgkb | rs199754807 |
| gwascentral | rs199754807 |
| openSNP | rs199754807 |
| 23andMe | rs199754807 |
| SNPshot | rs199754807 |
| SNPdbe | rs199754807 |
| MSV3d | rs199754807 |
| GWAS Ctlg | rs199754807 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199754807(G;G) |
| Alt | rs199754807(G;G) |
| Reference | Rs199754807(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | NDUFAF2 ERCC8 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.60241196C>G |
| CLNSRC | |
| CLNACC | RCV000485122.1, |
