rs397517408
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (C;C) | 0 | common in clinvar |
| Make rs397517408(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31093617 |
| Gene | DSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397517408 |
| dbSNP (classic) | rs397517408 |
| ClinGen | rs397517408 |
| ebi | rs397517408 |
| HLI | rs397517408 |
| Exac | rs397517408 |
| Gnomad | rs397517408 |
| Varsome | rs397517408 |
| LitVar | rs397517408 |
| Map | rs397517408 |
| PheGenI | rs397517408 |
| Biobank | rs397517408 |
| 1000 genomes | rs397517408 |
| hgdp | rs397517408 |
| ensembl | rs397517408 |
| geneview | rs397517408 |
| scholar | rs397517408 |
| rs397517408 | |
| pharmgkb | rs397517408 |
| gwascentral | rs397517408 |
| openSNP | rs397517408 |
| 23andMe | rs397517408 |
| SNPshot | rs397517408 |
| SNPdbe | rs397517408 |
| MSV3d | rs397517408 |
| GWAS Ctlg | rs397517408 |
| Max Magnitude | 6.7 |
| ClinVar | |
|---|---|
| Risk | rs397517408(-;-) |
| Alt | rs397517408(-;-) |
| Reference | Rs397517408(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSC2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000018.9:g.28673580delG |
| CLNSRC | ClinVar |
| CLNACC | RCV000039448.2, |
