rs60798368
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs60798368(C;T) |
| Make rs60798368(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 219418508 |
| Gene | DES |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60798368 |
| dbSNP (classic) | rs60798368 |
| ClinGen | rs60798368 |
| ebi | rs60798368 |
| HLI | rs60798368 |
| Exac | rs60798368 |
| Gnomad | rs60798368 |
| Varsome | rs60798368 |
| LitVar | rs60798368 |
| Map | rs60798368 |
| PheGenI | rs60798368 |
| Biobank | rs60798368 |
| 1000 genomes | rs60798368 |
| hgdp | rs60798368 |
| ensembl | rs60798368 |
| geneview | rs60798368 |
| scholar | rs60798368 |
| rs60798368 | |
| pharmgkb | rs60798368 |
| gwascentral | rs60798368 |
| openSNP | rs60798368 |
| 23andMe | rs60798368 |
| SNPshot | rs60798368 |
| SNPdbe | rs60798368 |
| MSV3d | rs60798368 |
| GWAS Ctlg | rs60798368 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60798368(T;T) |
| Alt | rs60798368(T;T) |
| Reference | Rs60798368(C;C) |
| Significance | Pathogenic |
| Disease | not provided Myofibrillar myopathy |
| Variation | info |
| Gene | DES |
| CLNDBN | not provided Myofibrillar myopathy |
| Reversed | 0 |
| HGVS | NC_000002.11:g.220283230C>T |
| CLNSRC | |
| CLNACC | RCV000056802.1, RCV000239680.1, |
