rs193922385
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | Linked to hypertrophic and dilated cardiomyopathy |
| Make rs193922385(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47349899 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922385 |
| dbSNP (classic) | rs193922385 |
| ClinGen | rs193922385 |
| ebi | rs193922385 |
| HLI | rs193922385 |
| Exac | rs193922385 |
| Gnomad | rs193922385 |
| Varsome | rs193922385 |
| LitVar | rs193922385 |
| Map | rs193922385 |
| PheGenI | rs193922385 |
| Biobank | rs193922385 |
| 1000 genomes | rs193922385 |
| hgdp | rs193922385 |
| ensembl | rs193922385 |
| geneview | rs193922385 |
| scholar | rs193922385 |
| rs193922385 | |
| pharmgkb | rs193922385 |
| gwascentral | rs193922385 |
| openSNP | rs193922385 |
| 23andMe | rs193922385 |
| SNPshot | rs193922385 |
| SNPdbe | rs193922385 |
| MSV3d | rs193922385 |
| GWAS Ctlg | rs193922385 |
| Max Magnitude | 2 |
[PMID 24062880
] Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
| ClinVar | |
|---|---|
| Risk | rs193922385(T;T) |
| Alt | rs193922385(T;T) |
| Reference | Rs193922385(C;C) |
| Significance | Other |
| 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.47371450G>A |
| CLNSRC | ClinVar LabCorp University of Washington |
| CLNACC | RCV000030291.3, RCV000151166.3, |
