rs200797552
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common genotype |
| Make rs200797552(C;T) |
| Make rs200797552(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 178578078 |
| Gene | TTN, TTN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200797552 |
| dbSNP (classic) | rs200797552 |
| ClinGen | rs200797552 |
| ebi | rs200797552 |
| HLI | rs200797552 |
| Exac | rs200797552 |
| Gnomad | rs200797552 |
| Varsome | rs200797552 |
| LitVar | rs200797552 |
| Map | rs200797552 |
| PheGenI | rs200797552 |
| Biobank | rs200797552 |
| 1000 genomes | rs200797552 |
| hgdp | rs200797552 |
| ensembl | rs200797552 |
| geneview | rs200797552 |
| scholar | rs200797552 |
| rs200797552 | |
| pharmgkb | rs200797552 |
| gwascentral | rs200797552 |
| openSNP | rs200797552 |
| 23andMe | rs200797552 |
| SNPshot | rs200797552 |
| SNPdbe | rs200797552 |
| MSV3d | rs200797552 |
| GWAS Ctlg | rs200797552 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200797552(A;A) rs200797552(T;T) |
| Alt | rs200797552(A;A) rs200797552(T;T) |
| Reference | Rs200797552(C;C) |
| Significance | Other |
| Disease | Primary dilated cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Myopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy |
| Variation | info |
| Gene | TTN TTN-AS1 |
| CLNDBN | Primary dilated cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179442805C>A; NC_000002.11:g.179442805C>T |
| CLNSRC | Illumina |
| CLNACC | RCV000208381.1, RCV000154926.1, RCV000172272.3, RCV000234385.2, RCV000248442.1, RCV000261085.1, RCV000262197.1, RCV000316255.1, RCV000322486.1, RCV000370118.1, RCV000375502.1, |
