rs121913658
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs121913658(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 110913316 |
| Gene | MYL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913658 |
| dbSNP (classic) | rs121913658 |
| ClinGen | rs121913658 |
| ebi | rs121913658 |
| HLI | rs121913658 |
| Exac | rs121913658 |
| Gnomad | rs121913658 |
| Varsome | rs121913658 |
| LitVar | rs121913658 |
| Map | rs121913658 |
| PheGenI | rs121913658 |
| Biobank | rs121913658 |
| 1000 genomes | rs121913658 |
| hgdp | rs121913658 |
| ensembl | rs121913658 |
| geneview | rs121913658 |
| scholar | rs121913658 |
| rs121913658 | |
| pharmgkb | rs121913658 |
| gwascentral | rs121913658 |
| openSNP | rs121913658 |
| 23andMe | rs121913658 |
| SNPshot | rs121913658 |
| SNPdbe | rs121913658 |
| MSV3d | rs121913658 |
| GWAS Ctlg | rs121913658 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs121913658(G;G) |
| Alt | rs121913658(G;G) |
| Reference | Rs121913658(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 10 |
| Variation | info |
| Gene | MYL2 |
| CLNDBN | Familial hypertrophic cardiomyopathy 10 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.111351120G>C |
| CLNSRC | Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015110.25, |
[PMID 8673105] Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
