rs192057022
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs192057022(C;T) |
| Make rs192057022(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 110913139 |
| Gene | MYL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs192057022 |
| dbSNP (classic) | rs192057022 |
| ClinGen | rs192057022 |
| ebi | rs192057022 |
| HLI | rs192057022 |
| Exac | rs192057022 |
| Gnomad | rs192057022 |
| Varsome | rs192057022 |
| LitVar | rs192057022 |
| Map | rs192057022 |
| PheGenI | rs192057022 |
| Biobank | rs192057022 |
| 1000 genomes | rs192057022 |
| hgdp | rs192057022 |
| ensembl | rs192057022 |
| geneview | rs192057022 |
| scholar | rs192057022 |
| rs192057022 | |
| pharmgkb | rs192057022 |
| gwascentral | rs192057022 |
| openSNP | rs192057022 |
| 23andMe | rs192057022 |
| SNPshot | rs192057022 |
| SNPdbe | rs192057022 |
| MSV3d | rs192057022 |
| GWAS Ctlg | rs192057022 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs192057022(T;T) |
| Alt | rs192057022(T;T) |
| Reference | Rs192057022(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not specified Familial hypertrophic cardiomyopathy 10 |
| Variation | info |
| Gene | MYL2 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Familial hypertrophic cardiomyopathy 10 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.111350943C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030324.1, RCV000036398.2, RCV000228967.1, |
