rs587779456
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.5 | Ehlers-Danlos Syndrome (EDS) type 4 |
| (G;G) | 0 | common in clinvar |
| Make rs587779456(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 189005396 |
| Gene | COL3A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587779456 |
| dbSNP (classic) | rs587779456 |
| ClinGen | rs587779456 |
| ebi | rs587779456 |
| HLI | rs587779456 |
| Exac | rs587779456 |
| Gnomad | rs587779456 |
| Varsome | rs587779456 |
| LitVar | rs587779456 |
| Map | rs587779456 |
| PheGenI | rs587779456 |
| Biobank | rs587779456 |
| 1000 genomes | rs587779456 |
| hgdp | rs587779456 |
| ensembl | rs587779456 |
| geneview | rs587779456 |
| scholar | rs587779456 |
| rs587779456 | |
| pharmgkb | rs587779456 |
| gwascentral | rs587779456 |
| openSNP | rs587779456 |
| 23andMe | rs587779456 |
| SNPshot | rs587779456 |
| SNPdbe | rs587779456 |
| MSV3d | rs587779456 |
| GWAS Ctlg | rs587779456 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs587779456(A;A) |
| Alt | rs587779456(A;A) |
| Reference | Rs587779456(G;G) |
| Significance | Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL3A1 |
| CLNDBN | Ehlers-Danlos syndrome, type 4 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.189870122G>A |
| CLNSRC | |
| CLNACC | RCV000087385.1, |
