rs151024019
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs151024019(A;C) |
| Make rs151024019(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31070782 |
| Gene | DSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151024019 |
| dbSNP (classic) | rs151024019 |
| ClinGen | rs151024019 |
| ebi | rs151024019 |
| HLI | rs151024019 |
| Exac | rs151024019 |
| Gnomad | rs151024019 |
| Varsome | rs151024019 |
| LitVar | rs151024019 |
| Map | rs151024019 |
| PheGenI | rs151024019 |
| Biobank | rs151024019 |
| 1000 genomes | rs151024019 |
| hgdp | rs151024019 |
| ensembl | rs151024019 |
| geneview | rs151024019 |
| scholar | rs151024019 |
| rs151024019 | |
| pharmgkb | rs151024019 |
| gwascentral | rs151024019 |
| openSNP | rs151024019 |
| 23andMe | rs151024019 |
| SNPshot | rs151024019 |
| SNPdbe | rs151024019 |
| MSV3d | rs151024019 |
| GWAS Ctlg | rs151024019 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151024019(C;C) |
| Alt | rs151024019(C;C) |
| Reference | Rs151024019(A;A) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular dysplasia/cardiomyopathy Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSC2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular dysplasia/cardiomyopathy Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 11 |
| Reversed | 0 |
| HGVS | NC_000018.9:g.28650748A>C |
| CLNSRC | ClinVar LabCorp University of Washington |
| CLNACC | RCV000029663.2, RCV000039419.4, RCV000148468.3, RCV000157173.1, RCV000233024.2, |
[PMID 20031616] Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
