rs193922377
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922377(A;A) |
| Make rs193922377(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47343051 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922377 |
| dbSNP (classic) | rs193922377 |
| ClinGen | rs193922377 |
| ebi | rs193922377 |
| HLI | rs193922377 |
| Exac | rs193922377 |
| Gnomad | rs193922377 |
| Varsome | rs193922377 |
| LitVar | rs193922377 |
| Map | rs193922377 |
| PheGenI | rs193922377 |
| Biobank | rs193922377 |
| 1000 genomes | rs193922377 |
| hgdp | rs193922377 |
| ensembl | rs193922377 |
| geneview | rs193922377 |
| scholar | rs193922377 |
| rs193922377 | |
| pharmgkb | rs193922377 |
| gwascentral | rs193922377 |
| openSNP | rs193922377 |
| 23andMe | rs193922377 |
| SNPshot | rs193922377 |
| SNPdbe | rs193922377 |
| MSV3d | rs193922377 |
| GWAS Ctlg | rs193922377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922377(A;A) |
| Alt | rs193922377(A;A) |
| Reference | Rs193922377(G;G) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not specified |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47364602C>T |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000030279.4, RCV000035382.6, |
[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
[PMID 20414521] [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
[PMID 20624503] Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
[PMID 20851114] Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
