rs730880162
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| Make rs730880162(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 46859509 |
| Gene | MYL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880162 |
| dbSNP (classic) | rs730880162 |
| ClinGen | rs730880162 |
| ebi | rs730880162 |
| HLI | rs730880162 |
| Exac | rs730880162 |
| Gnomad | rs730880162 |
| Varsome | rs730880162 |
| LitVar | rs730880162 |
| Map | rs730880162 |
| PheGenI | rs730880162 |
| Biobank | rs730880162 |
| 1000 genomes | rs730880162 |
| hgdp | rs730880162 |
| ensembl | rs730880162 |
| geneview | rs730880162 |
| scholar | rs730880162 |
| rs730880162 | |
| pharmgkb | rs730880162 |
| gwascentral | rs730880162 |
| openSNP | rs730880162 |
| 23andMe | rs730880162 |
| SNPshot | rs730880162 |
| SNPdbe | rs730880162 |
| MSV3d | rs730880162 |
| GWAS Ctlg | rs730880162 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs730880162(A;A) rs730880162(T;T) |
| Alt | rs730880162(A;A) rs730880162(T;T) |
| Reference | Rs730880162(G;G) |
| Significance | Pathogenic |
| Disease | not provided Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYL3 |
| CLNDBN | not provided Primary familial hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000003.11:g.46900999C>A; NC_000003.11:g.46900999C>T |
| CLNSRC | |
| CLNACC | RCV000158949.2, RCV000157372.1, |
