rs772445337
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
| (G;G) | 0 | common in clinvar |
| Make rs772445337(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 134812641 |
| Gene | COL5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772445337 |
| dbSNP (classic) | rs772445337 |
| ClinGen | rs772445337 |
| ebi | rs772445337 |
| HLI | rs772445337 |
| Exac | rs772445337 |
| Gnomad | rs772445337 |
| Varsome | rs772445337 |
| LitVar | rs772445337 |
| Map | rs772445337 |
| PheGenI | rs772445337 |
| Biobank | rs772445337 |
| 1000 genomes | rs772445337 |
| hgdp | rs772445337 |
| ensembl | rs772445337 |
| geneview | rs772445337 |
| scholar | rs772445337 |
| rs772445337 | |
| pharmgkb | rs772445337 |
| gwascentral | rs772445337 |
| openSNP | rs772445337 |
| 23andMe | rs772445337 |
| SNPshot | rs772445337 |
| SNPdbe | rs772445337 |
| MSV3d | rs772445337 |
| GWAS Ctlg | rs772445337 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs772445337(A;A) |
| Alt | rs772445337(A;A) |
| Reference | Rs772445337(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | Ehlers-Danlos syndrome, classic type |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137704487G>A |
| CLNSRC | |
| CLNACC | RCV000178644.1, |
