rs144601090
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs144601090(A;G) |
| Make rs144601090(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 32821439 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144601090 |
| dbSNP (classic) | rs144601090 |
| ClinGen | rs144601090 |
| ebi | rs144601090 |
| HLI | rs144601090 |
| Exac | rs144601090 |
| Gnomad | rs144601090 |
| Varsome | rs144601090 |
| LitVar | rs144601090 |
| Map | rs144601090 |
| PheGenI | rs144601090 |
| Biobank | rs144601090 |
| 1000 genomes | rs144601090 |
| hgdp | rs144601090 |
| ensembl | rs144601090 |
| geneview | rs144601090 |
| scholar | rs144601090 |
| rs144601090 | |
| pharmgkb | rs144601090 |
| gwascentral | rs144601090 |
| openSNP | rs144601090 |
| 23andMe | rs144601090 |
| SNPshot | rs144601090 |
| SNPdbe | rs144601090 |
| MSV3d | rs144601090 |
| GWAS Ctlg | rs144601090 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144601090(G;G) |
| Alt | rs144601090(G;G) |
| Reference | Rs144601090(A;A) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | PKP2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy, type 9 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.32974373A>G |
| CLNSRC | ClinVar University of Washington |
| CLNACC | RCV000038195.3, RCV000154180.3, RCV000468300.1, |
