rs794729122
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (C;C) | 0 | common in clinvar |
| Make rs794729122(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 32878257 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794729122 |
| dbSNP (classic) | rs794729122 |
| ClinGen | rs794729122 |
| ebi | rs794729122 |
| HLI | rs794729122 |
| Exac | rs794729122 |
| Gnomad | rs794729122 |
| Varsome | rs794729122 |
| LitVar | rs794729122 |
| Map | rs794729122 |
| PheGenI | rs794729122 |
| Biobank | rs794729122 |
| 1000 genomes | rs794729122 |
| hgdp | rs794729122 |
| ensembl | rs794729122 |
| geneview | rs794729122 |
| scholar | rs794729122 |
| rs794729122 | |
| pharmgkb | rs794729122 |
| gwascentral | rs794729122 |
| openSNP | rs794729122 |
| 23andMe | rs794729122 |
| SNPshot | rs794729122 |
| SNPdbe | rs794729122 |
| MSV3d | rs794729122 |
| GWAS Ctlg | rs794729122 |
| Max Magnitude | 6.7 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs794729122(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PKP2 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.33031191delG |
| CLNSRC | |
| CLNACC | RCV000183783.2, |
