rs201078659
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs201078659(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47346380 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201078659 |
| dbSNP (classic) | rs201078659 |
| ClinGen | rs201078659 |
| ebi | rs201078659 |
| HLI | rs201078659 |
| Exac | rs201078659 |
| Gnomad | rs201078659 |
| Varsome | rs201078659 |
| LitVar | rs201078659 |
| Map | rs201078659 |
| PheGenI | rs201078659 |
| Biobank | rs201078659 |
| 1000 genomes | rs201078659 |
| hgdp | rs201078659 |
| ensembl | rs201078659 |
| geneview | rs201078659 |
| scholar | rs201078659 |
| rs201078659 | |
| pharmgkb | rs201078659 |
| gwascentral | rs201078659 |
| openSNP | rs201078659 |
| 23andMe | rs201078659 |
| SNPshot | rs201078659 |
| SNPdbe | rs201078659 |
| MSV3d | rs201078659 |
| GWAS Ctlg | rs201078659 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs201078659(A;A) rs201078659(C;C) rs201078659(T;T) |
| Alt | rs201078659(A;A) rs201078659(C;C) rs201078659(T;T) |
| Reference | Rs201078659(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy not specified Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant not specified Primary familial hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47367931G>A; NC_000011.9:g.47367931G>C; NC_000011.9:g.47367931G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000305886.1, RCV000360595.1, RCV000396667.1, RCV000433499.1, RCV000035681.2, |
