rs786205367
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs786205367(C;C) |
| Make rs786205367(C;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 178546050 |
| Gene | TTN, TTN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786205367 |
| dbSNP (classic) | rs786205367 |
| ClinGen | rs786205367 |
| ebi | rs786205367 |
| HLI | rs786205367 |
| Exac | rs786205367 |
| Gnomad | rs786205367 |
| Varsome | rs786205367 |
| LitVar | rs786205367 |
| Map | rs786205367 |
| PheGenI | rs786205367 |
| Biobank | rs786205367 |
| 1000 genomes | rs786205367 |
| hgdp | rs786205367 |
| ensembl | rs786205367 |
| geneview | rs786205367 |
| scholar | rs786205367 |
| rs786205367 | |
| pharmgkb | rs786205367 |
| gwascentral | rs786205367 |
| openSNP | rs786205367 |
| 23andMe | rs786205367 |
| SNPshot | rs786205367 |
| SNPdbe | rs786205367 |
| MSV3d | rs786205367 |
| GWAS Ctlg | rs786205367 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786205367(C;C) rs786205367(T;T) |
| Alt | rs786205367(C;C) rs786205367(T;T) |
| Reference | Rs786205367(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary myopathy with early respiratory failure not provided |
| Variation | info |
| Gene | TTN TTN-AS1 |
| CLNDBN | Hereditary myopathy with early respiratory failure not provided |
| Reversed | 1 |
| HGVS | NC_000002.11:g.179410777C>A; NC_000002.11:g.179410777C>G |
| CLNSRC | |
| CLNACC | RCV000119023.2, RCV000172187.1, |
