rs765079080
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
| (T;T) | 0 | common in clinvar |
| Make rs765079080(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 134795057 |
| Gene | COL5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765079080 |
| dbSNP (classic) | rs765079080 |
| ClinGen | rs765079080 |
| ebi | rs765079080 |
| HLI | rs765079080 |
| Exac | rs765079080 |
| Gnomad | rs765079080 |
| Varsome | rs765079080 |
| LitVar | rs765079080 |
| Map | rs765079080 |
| PheGenI | rs765079080 |
| Biobank | rs765079080 |
| 1000 genomes | rs765079080 |
| hgdp | rs765079080 |
| ensembl | rs765079080 |
| geneview | rs765079080 |
| scholar | rs765079080 |
| rs765079080 | |
| pharmgkb | rs765079080 |
| gwascentral | rs765079080 |
| openSNP | rs765079080 |
| 23andMe | rs765079080 |
| SNPshot | rs765079080 |
| SNPdbe | rs765079080 |
| MSV3d | rs765079080 |
| GWAS Ctlg | rs765079080 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs765079080(G;G) |
| Alt | rs765079080(G;G) |
| Reference | Rs765079080(T;T) |
| Significance | Other |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | Ehlers-Danlos syndrome, classic type |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137686903T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018728.28, |
