rs200830807
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200830807(A;A) |
| Make rs200830807(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 31546426 |
| Gene | DSG2, DSG2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200830807 |
| dbSNP (classic) | rs200830807 |
| ClinGen | rs200830807 |
| ebi | rs200830807 |
| HLI | rs200830807 |
| Exac | rs200830807 |
| Gnomad | rs200830807 |
| Varsome | rs200830807 |
| LitVar | rs200830807 |
| Map | rs200830807 |
| PheGenI | rs200830807 |
| Biobank | rs200830807 |
| 1000 genomes | rs200830807 |
| hgdp | rs200830807 |
| ensembl | rs200830807 |
| geneview | rs200830807 |
| scholar | rs200830807 |
| rs200830807 | |
| pharmgkb | rs200830807 |
| gwascentral | rs200830807 |
| openSNP | rs200830807 |
| 23andMe | rs200830807 |
| SNPshot | rs200830807 |
| SNPdbe | rs200830807 |
| MSV3d | rs200830807 |
| GWAS Ctlg | rs200830807 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200830807(A;A) |
| Alt | rs200830807(A;A) |
| Reference | Rs200830807(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSG2-AS1 DSG2 |
| CLNDBN | not specified Dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 10 |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29126389G>A |
| CLNSRC | |
| CLNACC | RCV000037296.3, RCV000171834.1, RCV000242473.1, RCV000473314.1, |
