rs121909530
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | Nemaline Myopathy 3 |
| (C;T) | 2 | Nemaline Myopathy 3 |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 229432134 |
| Gene | ACTA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909530 |
| dbSNP (classic) | rs121909530 |
| ClinGen | rs121909530 |
| ebi | rs121909530 |
| HLI | rs121909530 |
| Exac | rs121909530 |
| Gnomad | rs121909530 |
| Varsome | rs121909530 |
| LitVar | rs121909530 |
| Map | rs121909530 |
| PheGenI | rs121909530 |
| Biobank | rs121909530 |
| 1000 genomes | rs121909530 |
| hgdp | rs121909530 |
| ensembl | rs121909530 |
| geneview | rs121909530 |
| scholar | rs121909530 |
| rs121909530 | |
| pharmgkb | rs121909530 |
| gwascentral | rs121909530 |
| openSNP | rs121909530 |
| 23andMe | rs121909530 |
| SNPshot | rs121909530 |
| SNPdbe | rs121909530 |
| MSV3d | rs121909530 |
| GWAS Ctlg | rs121909530 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | Rs121909530(C;C) |
| Alt | Rs121909530(C;C) |
| Reference | Rs121909530(T;T) |
| Significance | Pathogenic |
| Disease | Congenital myopathy with fiber type disproportion |
| Variation | info |
| Gene | ACTA1 |
| CLNDBN | Congenital myopathy with fiber type disproportion |
| Reversed | 1 |
| HGVS | NC_000001.10:g.229567881A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019952.28, |
[PMID 15468086] Actin mutations are one cause of congenital fibre type disproportion.
