rs794729291
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs794729291(C;G) |
| Make rs794729291(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 178565282 |
| Gene | TTN, TTN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794729291 |
| dbSNP (classic) | rs794729291 |
| ClinGen | rs794729291 |
| ebi | rs794729291 |
| HLI | rs794729291 |
| Exac | rs794729291 |
| Gnomad | rs794729291 |
| Varsome | rs794729291 |
| LitVar | rs794729291 |
| Map | rs794729291 |
| PheGenI | rs794729291 |
| Biobank | rs794729291 |
| 1000 genomes | rs794729291 |
| hgdp | rs794729291 |
| ensembl | rs794729291 |
| geneview | rs794729291 |
| scholar | rs794729291 |
| rs794729291 | |
| pharmgkb | rs794729291 |
| gwascentral | rs794729291 |
| openSNP | rs794729291 |
| 23andMe | rs794729291 |
| SNPshot | rs794729291 |
| SNPdbe | rs794729291 |
| MSV3d | rs794729291 |
| GWAS Ctlg | rs794729291 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794729291(G;G) |
| Alt | rs794729291(G;G) |
| Reference | Rs794729291(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Myopathy Hereditary myopathy with early respiratory failure |
| Variation | info |
| Gene | TTN TTN-AS1 |
| CLNDBN | not provided Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure |
| Reversed | 1 |
| HGVS | NC_000002.11:g.179430009G>C |
| CLNSRC | |
| CLNACC | RCV000184268.2, RCV000261540.1, RCV000315308.1, RCV000350493.1, RCV000354015.1, RCV000399818.1, |
