rs573916965
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (C;C) | 0 | common in clinvar |
| Make rs573916965(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 47346297 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs573916965 |
| dbSNP (classic) | rs573916965 |
| ClinGen | rs573916965 |
| ebi | rs573916965 |
| HLI | rs573916965 |
| Exac | rs573916965 |
| Gnomad | rs573916965 |
| Varsome | rs573916965 |
| LitVar | rs573916965 |
| Map | rs573916965 |
| PheGenI | rs573916965 |
| Biobank | rs573916965 |
| 1000 genomes | rs573916965 |
| hgdp | rs573916965 |
| ensembl | rs573916965 |
| geneview | rs573916965 |
| scholar | rs573916965 |
| rs573916965 | |
| pharmgkb | rs573916965 |
| gwascentral | rs573916965 |
| openSNP | rs573916965 |
| 23andMe | rs573916965 |
| SNPshot | rs573916965 |
| SNPdbe | rs573916965 |
| MSV3d | rs573916965 |
| GWAS Ctlg | rs573916965 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs573916965(A;A) rs573916965(T;T) |
| Alt | rs573916965(A;A) rs573916965(T;T) |
| Reference | Rs573916965(C;C) |
| Significance | Other |
| Disease | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47367848C>A; NC_000011.9:g.47367848C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000211794.2, RCV000154555.4, RCV000168764.2, RCV000294264.1, RCV000349011.1, RCV000405438.1, |
