rs200473206
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200473206(A;A) |
| Make rs200473206(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 7555825 |
| Gene | DSP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200473206 |
| dbSNP (classic) | rs200473206 |
| ClinGen | rs200473206 |
| ebi | rs200473206 |
| HLI | rs200473206 |
| Exac | rs200473206 |
| Gnomad | rs200473206 |
| Varsome | rs200473206 |
| LitVar | rs200473206 |
| Map | rs200473206 |
| PheGenI | rs200473206 |
| Biobank | rs200473206 |
| 1000 genomes | rs200473206 |
| hgdp | rs200473206 |
| ensembl | rs200473206 |
| geneview | rs200473206 |
| scholar | rs200473206 |
| rs200473206 | |
| pharmgkb | rs200473206 |
| gwascentral | rs200473206 |
| openSNP | rs200473206 |
| 23andMe | rs200473206 |
| SNPshot | rs200473206 |
| SNPdbe | rs200473206 |
| MSV3d | rs200473206 |
| GWAS Ctlg | rs200473206 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200473206(A;A) |
| Alt | rs200473206(A;A) |
| Reference | Rs200473206(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSP |
| CLNDBN | not specified Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000006.11:g.7556058G>A |
| CLNSRC | |
| CLNACC | RCV000150557.4, RCV000157211.1, RCV000157212.1, RCV000232421.2, RCV000239152.1, |
