rs45451303
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs45451303(C;T) |
| Make rs45451303(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 14 |
| Position | 23418304 |
| Gene | MIR208B, MYH7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45451303 |
| dbSNP (classic) | rs45451303 |
| ClinGen | rs45451303 |
| ebi | rs45451303 |
| HLI | rs45451303 |
| Exac | rs45451303 |
| Gnomad | rs45451303 |
| Varsome | rs45451303 |
| LitVar | rs45451303 |
| Map | rs45451303 |
| PheGenI | rs45451303 |
| Biobank | rs45451303 |
| 1000 genomes | rs45451303 |
| hgdp | rs45451303 |
| ensembl | rs45451303 |
| geneview | rs45451303 |
| scholar | rs45451303 |
| rs45451303 | |
| pharmgkb | rs45451303 |
| gwascentral | rs45451303 |
| openSNP | rs45451303 |
| 23andMe | rs45451303 |
| SNPshot | rs45451303 |
| SNPdbe | rs45451303 |
| MSV3d | rs45451303 |
| GWAS Ctlg | rs45451303 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs45451303(A;A) rs45451303(T;T) |
| Alt | rs45451303(A;A) rs45451303(T;T) |
| Reference | Rs45451303(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Familial hypertrophic cardiomyopathy 1 |
| Variation | info |
| Gene | MYH7 MIR208B |
| CLNDBN | not specified Familial hypertrophic cardiomyopathy 1 |
| Reversed | 1 |
| HGVS | NC_000014.8:g.23887513G>A; NC_000014.8:g.23887513G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000154773.3, RCV000201890.1, RCV000156905.1, |
