rs200343561
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs200343561(C;C) |
| Make rs200343561(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 32841047 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200343561 |
| dbSNP (classic) | rs200343561 |
| ClinGen | rs200343561 |
| ebi | rs200343561 |
| HLI | rs200343561 |
| Exac | rs200343561 |
| Gnomad | rs200343561 |
| Varsome | rs200343561 |
| LitVar | rs200343561 |
| Map | rs200343561 |
| PheGenI | rs200343561 |
| Biobank | rs200343561 |
| 1000 genomes | rs200343561 |
| hgdp | rs200343561 |
| ensembl | rs200343561 |
| geneview | rs200343561 |
| scholar | rs200343561 |
| rs200343561 | |
| pharmgkb | rs200343561 |
| gwascentral | rs200343561 |
| openSNP | rs200343561 |
| 23andMe | rs200343561 |
| SNPshot | rs200343561 |
| SNPdbe | rs200343561 |
| MSV3d | rs200343561 |
| GWAS Ctlg | rs200343561 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200343561(C;C) |
| Alt | rs200343561(C;C) |
| Reference | Rs200343561(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | PKP2 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.32993981T>C |
| CLNSRC | |
| CLNACC | RCV000183749.2, |
