rs553299589
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (C;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (G;G) | 0 | common in clinvar |
| Make rs553299589(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 18 |
| Position | 31521244 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs553299589 |
| dbSNP (classic) | rs553299589 |
| ClinGen | rs553299589 |
| ebi | rs553299589 |
| HLI | rs553299589 |
| Exac | rs553299589 |
| Gnomad | rs553299589 |
| Varsome | rs553299589 |
| LitVar | rs553299589 |
| Map | rs553299589 |
| PheGenI | rs553299589 |
| Biobank | rs553299589 |
| 1000 genomes | rs553299589 |
| hgdp | rs553299589 |
| ensembl | rs553299589 |
| geneview | rs553299589 |
| scholar | rs553299589 |
| rs553299589 | |
| pharmgkb | rs553299589 |
| gwascentral | rs553299589 |
| openSNP | rs553299589 |
| 23andMe | rs553299589 |
| SNPshot | rs553299589 |
| SNPdbe | rs553299589 |
| MSV3d | rs553299589 |
| GWAS Ctlg | rs553299589 |
| Max Magnitude | 6.7 |
| ClinVar | |
|---|---|
| Risk | rs553299589(A;A) rs553299589(C;C) rs553299589(T;T) |
| Alt | rs553299589(A;A) rs553299589(C;C) rs553299589(T;T) |
| Reference | Rs553299589(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29101207G>A; NC_000018.9:g.29101207G>C |
| CLNSRC | |
| CLNACC | RCV000168625.2, RCV000168629.2, |
