rs397516073
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| Make rs397516073(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47347856 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516073 |
| dbSNP (classic) | rs397516073 |
| ClinGen | rs397516073 |
| ebi | rs397516073 |
| HLI | rs397516073 |
| Exac | rs397516073 |
| Gnomad | rs397516073 |
| Varsome | rs397516073 |
| LitVar | rs397516073 |
| Map | rs397516073 |
| PheGenI | rs397516073 |
| Biobank | rs397516073 |
| 1000 genomes | rs397516073 |
| hgdp | rs397516073 |
| ensembl | rs397516073 |
| geneview | rs397516073 |
| scholar | rs397516073 |
| rs397516073 | |
| pharmgkb | rs397516073 |
| gwascentral | rs397516073 |
| openSNP | rs397516073 |
| 23andMe | rs397516073 |
| SNPshot | rs397516073 |
| SNPdbe | rs397516073 |
| MSV3d | rs397516073 |
| GWAS Ctlg | rs397516073 |
| Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
23andMe name: i704270
| ClinVar | |
|---|---|
| Risk | rs397516073(A;A) rs397516073(C;C) |
| Alt | rs397516073(A;A) rs397516073(C;C) |
| Reference | Rs397516073(G;G) |
| Significance | Other |
| Disease | Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47369407C>G; NC_000011.9:g.47369407C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000211831.1, RCV000158313.3, RCV000168401.5, RCV000211830.1, RCV000249601.1, |
