rs794727855
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs794727855(G;T) |
| Make rs794727855(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 21 |
| Position | 46116028 |
| Gene | COL6A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727855 |
| dbSNP (classic) | rs794727855 |
| ClinGen | rs794727855 |
| ebi | rs794727855 |
| HLI | rs794727855 |
| Exac | rs794727855 |
| Gnomad | rs794727855 |
| Varsome | rs794727855 |
| LitVar | rs794727855 |
| Map | rs794727855 |
| PheGenI | rs794727855 |
| Biobank | rs794727855 |
| 1000 genomes | rs794727855 |
| hgdp | rs794727855 |
| ensembl | rs794727855 |
| geneview | rs794727855 |
| scholar | rs794727855 |
| rs794727855 | |
| pharmgkb | rs794727855 |
| gwascentral | rs794727855 |
| openSNP | rs794727855 |
| 23andMe | rs794727855 |
| SNPshot | rs794727855 |
| SNPdbe | rs794727855 |
| MSV3d | rs794727855 |
| GWAS Ctlg | rs794727855 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794727855(T;T) |
| Alt | rs794727855(T;T) |
| Reference | Rs794727855(G;G) |
| Significance | Pathogenic |
| Disease | Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
| Variation | info |
| Gene | COL6A2 |
| CLNDBN | Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47535942G>T |
| CLNSRC | |
| CLNACC | RCV000179831.1, RCV000179832.1, |
