rs121913013
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121913013(A;A) |
| Make rs121913013(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31519887 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913013 |
| dbSNP (classic) | rs121913013 |
| ClinGen | rs121913013 |
| ebi | rs121913013 |
| HLI | rs121913013 |
| Exac | rs121913013 |
| Gnomad | rs121913013 |
| Varsome | rs121913013 |
| LitVar | rs121913013 |
| Map | rs121913013 |
| PheGenI | rs121913013 |
| Biobank | rs121913013 |
| 1000 genomes | rs121913013 |
| hgdp | rs121913013 |
| ensembl | rs121913013 |
| geneview | rs121913013 |
| scholar | rs121913013 |
| rs121913013 | |
| pharmgkb | rs121913013 |
| gwascentral | rs121913013 |
| openSNP | rs121913013 |
| 23andMe | rs121913013 |
| SNPshot | rs121913013 |
| SNPdbe | rs121913013 |
| MSV3d | rs121913013 |
| GWAS Ctlg | rs121913013 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121913013(A;A) |
| Alt | rs121913013(A;A) |
| Reference | Rs121913013(G;G) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Ventricular tachycardia Cardiovascular phenotype |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Ventricular tachycardia, catecholaminergic polymorphic, 1 Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29099850G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018311.25, RCV000018312.2, RCV000037270.4, RCV000148471.3, RCV000157179.1, RCV000157180.1, RCV000243248.1, |
