rs727503174
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs727503174(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 47333580 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727503174 |
| dbSNP (classic) | rs727503174 |
| ClinGen | rs727503174 |
| ebi | rs727503174 |
| HLI | rs727503174 |
| Exac | rs727503174 |
| Gnomad | rs727503174 |
| Varsome | rs727503174 |
| LitVar | rs727503174 |
| Map | rs727503174 |
| PheGenI | rs727503174 |
| Biobank | rs727503174 |
| 1000 genomes | rs727503174 |
| hgdp | rs727503174 |
| ensembl | rs727503174 |
| geneview | rs727503174 |
| scholar | rs727503174 |
| rs727503174 | |
| pharmgkb | rs727503174 |
| gwascentral | rs727503174 |
| openSNP | rs727503174 |
| 23andMe | rs727503174 |
| SNPshot | rs727503174 |
| SNPdbe | rs727503174 |
| MSV3d | rs727503174 |
| GWAS Ctlg | rs727503174 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs727503174(G;G) |
| Alt | rs727503174(G;G) |
| Reference | Rs727503174(-;-) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47355132dupC |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000211815.1, |
