rs199939582
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199939582(A;A) |
| Make rs199939582(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 115738350 |
| Gene | CASQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199939582 |
| dbSNP (classic) | rs199939582 |
| ClinGen | rs199939582 |
| ebi | rs199939582 |
| HLI | rs199939582 |
| Exac | rs199939582 |
| Gnomad | rs199939582 |
| Varsome | rs199939582 |
| LitVar | rs199939582 |
| Map | rs199939582 |
| PheGenI | rs199939582 |
| Biobank | rs199939582 |
| 1000 genomes | rs199939582 |
| hgdp | rs199939582 |
| ensembl | rs199939582 |
| geneview | rs199939582 |
| scholar | rs199939582 |
| rs199939582 | |
| pharmgkb | rs199939582 |
| gwascentral | rs199939582 |
| openSNP | rs199939582 |
| 23andMe | rs199939582 |
| SNPshot | rs199939582 |
| SNPdbe | rs199939582 |
| MSV3d | rs199939582 |
| GWAS Ctlg | rs199939582 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199939582(A;A) rs199939582(C;C) |
| Alt | rs199939582(A;A) rs199939582(C;C) |
| Reference | Rs199939582(G;G) |
| Significance | Other |
| Disease | not specified Catecholaminergic polymorphic ventricular tachycardia |
| Variation | info |
| Gene | CASQ2 |
| CLNDBN | not specified Catecholaminergic polymorphic ventricular tachycardia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.116280971G>A; NC_000001.10:g.116280971G>C |
| CLNSRC | |
| CLNACC | RCV000037142.3, RCV000037141.3, RCV000260116.1, |
