rs397515895
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs397515895(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47343099 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515895 |
| dbSNP (classic) | rs397515895 |
| ClinGen | rs397515895 |
| ebi | rs397515895 |
| HLI | rs397515895 |
| Exac | rs397515895 |
| Gnomad | rs397515895 |
| Varsome | rs397515895 |
| LitVar | rs397515895 |
| Map | rs397515895 |
| PheGenI | rs397515895 |
| Biobank | rs397515895 |
| 1000 genomes | rs397515895 |
| hgdp | rs397515895 |
| ensembl | rs397515895 |
| geneview | rs397515895 |
| scholar | rs397515895 |
| rs397515895 | |
| pharmgkb | rs397515895 |
| gwascentral | rs397515895 |
| openSNP | rs397515895 |
| 23andMe | rs397515895 |
| SNPshot | rs397515895 |
| SNPdbe | rs397515895 |
| MSV3d | rs397515895 |
| GWAS Ctlg | rs397515895 |
| 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
].
| ClinVar | |
|---|---|
| Risk | rs397515895(T;T) |
| Alt | rs397515895(T;T) |
| Reference | Rs397515895(C;C) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47364650G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000035383.2, |
