rs397515891
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs397515891(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47343264 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515891 |
| dbSNP (classic) | rs397515891 |
| ClinGen | rs397515891 |
| ebi | rs397515891 |
| HLI | rs397515891 |
| Exac | rs397515891 |
| Gnomad | rs397515891 |
| Varsome | rs397515891 |
| LitVar | rs397515891 |
| Map | rs397515891 |
| PheGenI | rs397515891 |
| Biobank | rs397515891 |
| 1000 genomes | rs397515891 |
| hgdp | rs397515891 |
| ensembl | rs397515891 |
| geneview | rs397515891 |
| scholar | rs397515891 |
| rs397515891 | |
| pharmgkb | rs397515891 |
| gwascentral | rs397515891 |
| openSNP | rs397515891 |
| 23andMe | rs397515891 |
| SNPshot | rs397515891 |
| SNPdbe | rs397515891 |
| MSV3d | rs397515891 |
| GWAS Ctlg | rs397515891 |
| Max Magnitude | 6.2 |
[PMID 27532257
] Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
[PMID 12707239] Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
| ClinVar | |
|---|---|
| Risk | rs397515891(G;G) |
| Alt | rs397515891(G;G) |
| Reference | Rs397515891(A;A) |
| Significance | Other |
| Disease | Primary familial hypertrophic cardiomyopathy not provided |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47364815T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000035376.2, RCV000158343.2, |
