rs371788070
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs371788070(C;G) |
| Make rs371788070(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 178562851 |
| Gene | TTN, TTN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371788070 |
| dbSNP (classic) | rs371788070 |
| ClinGen | rs371788070 |
| ebi | rs371788070 |
| HLI | rs371788070 |
| Exac | rs371788070 |
| Gnomad | rs371788070 |
| Varsome | rs371788070 |
| LitVar | rs371788070 |
| Map | rs371788070 |
| PheGenI | rs371788070 |
| Biobank | rs371788070 |
| 1000 genomes | rs371788070 |
| hgdp | rs371788070 |
| ensembl | rs371788070 |
| geneview | rs371788070 |
| scholar | rs371788070 |
| rs371788070 | |
| pharmgkb | rs371788070 |
| gwascentral | rs371788070 |
| openSNP | rs371788070 |
| 23andMe | rs371788070 |
| SNPshot | rs371788070 |
| SNPdbe | rs371788070 |
| MSV3d | rs371788070 |
| GWAS Ctlg | rs371788070 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs371788070(G;G) rs371788070(T;T) |
| Alt | rs371788070(G;G) rs371788070(T;T) |
| Reference | Rs371788070(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Myopathy Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | TTN TTN-AS1 |
| CLNDBN | Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179427578C>G; NC_000002.11:g.179427578C>T |
| CLNSRC | Illumina |
| CLNACC | RCV000267737.1, RCV000268849.1, RCV000322601.1, RCV000328564.1, RCV000363314.1, RCV000387425.1, RCV000040692.4, RCV000171313.5, RCV000466706.1, |
