rs193298428
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs193298428(A;C) |
| Make rs193298428(C;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 18 |
| Position | 31536259 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193298428 |
| dbSNP (classic) | rs193298428 |
| ClinGen | rs193298428 |
| ebi | rs193298428 |
| HLI | rs193298428 |
| Exac | rs193298428 |
| Gnomad | rs193298428 |
| Varsome | rs193298428 |
| LitVar | rs193298428 |
| Map | rs193298428 |
| PheGenI | rs193298428 |
| Biobank | rs193298428 |
| 1000 genomes | rs193298428 |
| hgdp | rs193298428 |
| ensembl | rs193298428 |
| geneview | rs193298428 |
| scholar | rs193298428 |
| rs193298428 | |
| pharmgkb | rs193298428 |
| gwascentral | rs193298428 |
| openSNP | rs193298428 |
| 23andMe | rs193298428 |
| SNPshot | rs193298428 |
| SNPdbe | rs193298428 |
| MSV3d | rs193298428 |
| GWAS Ctlg | rs193298428 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193298428(C;C) |
| Alt | rs193298428(C;C) |
| Reference | Rs193298428(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | Cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29116222A>C |
| CLNSRC | |
| CLNACC | RCV000181219.1, |
