rs780970079
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs780970079(-;CTTC) |
| Make rs780970079(CTTC;CTTC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 18 |
| Position | 31068135 |
| Gene | DSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780970079 |
| dbSNP (classic) | rs780970079 |
| ClinGen | rs780970079 |
| ebi | rs780970079 |
| HLI | rs780970079 |
| Exac | rs780970079 |
| Gnomad | rs780970079 |
| Varsome | rs780970079 |
| LitVar | rs780970079 |
| Map | rs780970079 |
| PheGenI | rs780970079 |
| Biobank | rs780970079 |
| 1000 genomes | rs780970079 |
| hgdp | rs780970079 |
| ensembl | rs780970079 |
| geneview | rs780970079 |
| scholar | rs780970079 |
| rs780970079 | |
| pharmgkb | rs780970079 |
| gwascentral | rs780970079 |
| openSNP | rs780970079 |
| 23andMe | rs780970079 |
| SNPshot | rs780970079 |
| SNPdbe | rs780970079 |
| MSV3d | rs780970079 |
| GWAS Ctlg | rs780970079 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780970079(CTTC;CTTC) |
| Alt | rs780970079(CTTC;CTTC) |
| Reference | Rs780970079(;) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | DSC2 |
| CLNDBN | Cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000018.9:g.28648102_28648105dupCTTC |
| CLNSRC | |
| CLNACC | RCV000181182.1, |
