rs397516997
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (ACAG;ACAG) | 0 | common in clinvar |
| Make rs397516997(-;-) |
| Make rs397516997(-;ACAG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 32896581 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516997 |
| dbSNP (classic) | rs397516997 |
| ClinGen | rs397516997 |
| ebi | rs397516997 |
| HLI | rs397516997 |
| Exac | rs397516997 |
| Gnomad | rs397516997 |
| Varsome | rs397516997 |
| LitVar | rs397516997 |
| Map | rs397516997 |
| PheGenI | rs397516997 |
| Biobank | rs397516997 |
| 1000 genomes | rs397516997 |
| hgdp | rs397516997 |
| ensembl | rs397516997 |
| geneview | rs397516997 |
| scholar | rs397516997 |
| rs397516997 | |
| pharmgkb | rs397516997 |
| gwascentral | rs397516997 |
| openSNP | rs397516997 |
| 23andMe | rs397516997 |
| SNPshot | rs397516997 |
| SNPdbe | rs397516997 |
| MSV3d | rs397516997 |
| GWAS Ctlg | rs397516997 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397516997(-;-) |
| Alt | rs397516997(-;-) |
| Reference | Rs397516997(ACAG;ACAG) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | PKP2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 9 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.33049515_33049518delCTGT |
| CLNSRC | ClinVar |
| CLNACC | RCV000157418.2, RCV000183796.3, RCV000228638.1, |
