rs17355446
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs17355446(A;A) |
| Make rs17355446(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 178724514 |
| Gene | TTN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17355446 |
| dbSNP (classic) | rs17355446 |
| ClinGen | rs17355446 |
| ebi | rs17355446 |
| HLI | rs17355446 |
| Exac | rs17355446 |
| Gnomad | rs17355446 |
| Varsome | rs17355446 |
| LitVar | rs17355446 |
| Map | rs17355446 |
| PheGenI | rs17355446 |
| Biobank | rs17355446 |
| 1000 genomes | rs17355446 |
| hgdp | rs17355446 |
| ensembl | rs17355446 |
| geneview | rs17355446 |
| scholar | rs17355446 |
| rs17355446 | |
| pharmgkb | rs17355446 |
| gwascentral | rs17355446 |
| openSNP | rs17355446 |
| 23andMe | rs17355446 |
| SNPshot | rs17355446 |
| SNPdbe | rs17355446 |
| MSV3d | rs17355446 |
| GWAS Ctlg | rs17355446 |
| GMAF | 0.02847 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs17355446(A;A) |
| Alt | rs17355446(A;A) |
| Reference | Rs17355446(G;G) |
| Significance | Other |
| Disease | not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Myopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy |
| Variation | info |
| Gene | TTN |
| CLNDBN | not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179589241G>A |
| CLNSRC | ClinVar GeneDx University of Chicago |
| CLNACC | RCV000039947.8, RCV000253741.1, RCV000291382.1, RCV000313861.1, RCV000348985.1, RCV000370842.1, RCV000398755.1, RCV000400666.1, |
