rs730880685
From SNPedia
| Merged into | rs397516080 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TT;TT) | 0 | common in clinvar |
| Make rs730880685(-;-) |
| Make rs730880685(-;TT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 47346640 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880685 |
| dbSNP (classic) | rs730880685 |
| ClinGen | rs730880685 |
| ebi | rs730880685 |
| HLI | rs730880685 |
| Exac | rs730880685 |
| Gnomad | rs730880685 |
| Varsome | rs730880685 |
| LitVar | rs730880685 |
| Map | rs730880685 |
| PheGenI | rs730880685 |
| Biobank | rs730880685 |
| 1000 genomes | rs730880685 |
| hgdp | rs730880685 |
| ensembl | rs730880685 |
| geneview | rs730880685 |
| scholar | rs730880685 |
| rs730880685 | |
| pharmgkb | rs730880685 |
| gwascentral | rs730880685 |
| openSNP | rs730880685 |
| 23andMe | rs730880685 |
| SNPshot | rs730880685 |
| SNPdbe | rs730880685 |
| MSV3d | rs730880685 |
| GWAS Ctlg | rs730880685 |
| Status | Merged into rs397516080 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs730880685(TT;TT) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47368191_47368192delAA |
| CLNSRC | |
| CLNACC | RCV000158421.1, |
