rs916512411
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 48571269 |
| Gene | COL7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs916512411 |
| dbSNP (classic) | rs916512411 |
| ClinGen | rs916512411 |
| ebi | rs916512411 |
| HLI | rs916512411 |
| Exac | rs916512411 |
| Gnomad | rs916512411 |
| Varsome | rs916512411 |
| LitVar | rs916512411 |
| Map | rs916512411 |
| PheGenI | rs916512411 |
| Biobank | rs916512411 |
| 1000 genomes | rs916512411 |
| hgdp | rs916512411 |
| ensembl | rs916512411 |
| geneview | rs916512411 |
| scholar | rs916512411 |
| rs916512411 | |
| pharmgkb | rs916512411 |
| gwascentral | rs916512411 |
| openSNP | rs916512411 |
| 23andMe | rs916512411 |
| SNPshot | rs916512411 |
| SNPdbe | rs916512411 |
| MSV3d | rs916512411 |
| GWAS Ctlg | rs916512411 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs916512411(T;T) |
| Alt | rs916512411(T;T) |
| Reference | Rs916512411(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.48608702C>T |
| CLNSRC | |
| CLNACC | RCV000413226.1, |
