rs147879266
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs147879266(C;T) |
| Make rs147879266(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 178738114 |
| Gene | TTN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147879266 |
| dbSNP (classic) | rs147879266 |
| ClinGen | rs147879266 |
| ebi | rs147879266 |
| HLI | rs147879266 |
| Exac | rs147879266 |
| Gnomad | rs147879266 |
| Varsome | rs147879266 |
| LitVar | rs147879266 |
| Map | rs147879266 |
| PheGenI | rs147879266 |
| Biobank | rs147879266 |
| 1000 genomes | rs147879266 |
| hgdp | rs147879266 |
| ensembl | rs147879266 |
| geneview | rs147879266 |
| scholar | rs147879266 |
| rs147879266 | |
| pharmgkb | rs147879266 |
| gwascentral | rs147879266 |
| openSNP | rs147879266 |
| 23andMe | rs147879266 |
| SNPshot | rs147879266 |
| SNPdbe | rs147879266 |
| MSV3d | rs147879266 |
| GWAS Ctlg | rs147879266 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147879266(T;T) |
| Alt | rs147879266(T;T) |
| Reference | Rs147879266(C;C) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 1G |
| Variation | info |
| Gene | TTN |
| CLNDBN | Dilated cardiomyopathy 1G |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179602841C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013494.24, |
