rs794727760
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
| (C;C) | 0 | common in clinvar |
| Make rs794727760(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 134817785 |
| Gene | COL5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727760 |
| dbSNP (classic) | rs794727760 |
| ClinGen | rs794727760 |
| ebi | rs794727760 |
| HLI | rs794727760 |
| Exac | rs794727760 |
| Gnomad | rs794727760 |
| Varsome | rs794727760 |
| LitVar | rs794727760 |
| Map | rs794727760 |
| PheGenI | rs794727760 |
| Biobank | rs794727760 |
| 1000 genomes | rs794727760 |
| hgdp | rs794727760 |
| ensembl | rs794727760 |
| geneview | rs794727760 |
| scholar | rs794727760 |
| rs794727760 | |
| pharmgkb | rs794727760 |
| gwascentral | rs794727760 |
| openSNP | rs794727760 |
| 23andMe | rs794727760 |
| SNPshot | rs794727760 |
| SNPdbe | rs794727760 |
| MSV3d | rs794727760 |
| GWAS Ctlg | rs794727760 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs794727760(-;-) |
| Alt | rs794727760(-;-) |
| Reference | Rs794727760(C;C) |
| Significance | Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | Ehlers-Danlos syndrome, classic type |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137709631delC |
| CLNSRC | |
| CLNACC | RCV000179137.1, |
