rs104893748
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs104893748(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 46859511 |
| Gene | MYL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893748 |
| dbSNP (classic) | rs104893748 |
| ClinGen | rs104893748 |
| ebi | rs104893748 |
| HLI | rs104893748 |
| Exac | rs104893748 |
| Gnomad | rs104893748 |
| Varsome | rs104893748 |
| LitVar | rs104893748 |
| Map | rs104893748 |
| PheGenI | rs104893748 |
| Biobank | rs104893748 |
| 1000 genomes | rs104893748 |
| hgdp | rs104893748 |
| ensembl | rs104893748 |
| geneview | rs104893748 |
| scholar | rs104893748 |
| rs104893748 | |
| pharmgkb | rs104893748 |
| gwascentral | rs104893748 |
| openSNP | rs104893748 |
| 23andMe | rs104893748 |
| SNPshot | rs104893748 |
| SNPdbe | rs104893748 |
| MSV3d | rs104893748 |
| GWAS Ctlg | rs104893748 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs104893748(G;G) |
| Alt | rs104893748(G;G) |
| Reference | Rs104893748(A;A) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 8 not provided Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYL3 |
| CLNDBN | Familial hypertrophic cardiomyopathy 8 not provided Hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000003.11:g.46901001T>C |
| CLNSRC | Leiden Muscular Dystrophy pages (MYL3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015105.21, RCV000158948.3, RCV000168418.1, |
[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.
