rs121909281
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121909281(C;C) |
| Make rs121909281(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8733916 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909281 |
| dbSNP (classic) | rs121909281 |
| ClinGen | rs121909281 |
| ebi | rs121909281 |
| HLI | rs121909281 |
| Exac | rs121909281 |
| Gnomad | rs121909281 |
| Varsome | rs121909281 |
| LitVar | rs121909281 |
| Map | rs121909281 |
| PheGenI | rs121909281 |
| Biobank | rs121909281 |
| 1000 genomes | rs121909281 |
| hgdp | rs121909281 |
| ensembl | rs121909281 |
| geneview | rs121909281 |
| scholar | rs121909281 |
| rs121909281 | |
| pharmgkb | rs121909281 |
| gwascentral | rs121909281 |
| openSNP | rs121909281 |
| 23andMe | rs121909281 |
| SNPshot | rs121909281 |
| SNPdbe | rs121909281 |
| MSV3d | rs121909281 |
| GWAS Ctlg | rs121909281 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121909281(A;A) rs121909281(C;C) |
| Alt | rs121909281(A;A) rs121909281(C;C) |
| Reference | Rs121909281(G;G) |
| Significance | Pathogenic |
| Disease | not specified Long QT syndrome Long QT syndrome 9 not provided |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | not specified Long QT syndrome Long QT syndrome 9 not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8775602G>A; NC_000003.11:g.8775602G>C |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000150234.2, RCV000460177.1, RCV000008793.2, RCV000024433.1, |
[PMID 17275750
] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
