rs121909280
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121909280(C;G) |
| Make rs121909280(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745602 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909280 |
| dbSNP (classic) | rs121909280 |
| ClinGen | rs121909280 |
| ebi | rs121909280 |
| HLI | rs121909280 |
| Exac | rs121909280 |
| Gnomad | rs121909280 |
| Varsome | rs121909280 |
| LitVar | rs121909280 |
| Map | rs121909280 |
| PheGenI | rs121909280 |
| Biobank | rs121909280 |
| 1000 genomes | rs121909280 |
| hgdp | rs121909280 |
| ensembl | rs121909280 |
| geneview | rs121909280 |
| scholar | rs121909280 |
| rs121909280 | |
| pharmgkb | rs121909280 |
| gwascentral | rs121909280 |
| openSNP | rs121909280 |
| 23andMe | rs121909280 |
| SNPshot | rs121909280 |
| SNPdbe | rs121909280 |
| MSV3d | rs121909280 |
| GWAS Ctlg | rs121909280 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121909280(G;G) |
| Alt | rs121909280(G;G) |
| Reference | Rs121909280(C;C) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not provided |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787288C>G |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008785.4, RCV000024395.1, |
[PMID 14672715] Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
