rs777625241
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs777625241(C;T) |
| Make rs777625241(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 134700037 |
| Gene | COL5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777625241 |
| dbSNP (classic) | rs777625241 |
| ClinGen | rs777625241 |
| ebi | rs777625241 |
| HLI | rs777625241 |
| Exac | rs777625241 |
| Gnomad | rs777625241 |
| Varsome | rs777625241 |
| LitVar | rs777625241 |
| Map | rs777625241 |
| PheGenI | rs777625241 |
| Biobank | rs777625241 |
| 1000 genomes | rs777625241 |
| hgdp | rs777625241 |
| ensembl | rs777625241 |
| geneview | rs777625241 |
| scholar | rs777625241 |
| rs777625241 | |
| pharmgkb | rs777625241 |
| gwascentral | rs777625241 |
| openSNP | rs777625241 |
| 23andMe | rs777625241 |
| SNPshot | rs777625241 |
| SNPdbe | rs777625241 |
| MSV3d | rs777625241 |
| GWAS Ctlg | rs777625241 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs777625241(T;T) |
| Alt | rs777625241(T;T) |
| Reference | Rs777625241(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | Ehlers-Danlos syndrome, classic type |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137591883C>T |
| CLNSRC | Baylor College of Medicine |
| CLNACC | RCV000191074.1, |
