rs398124126
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs398124126(A;A) |
| Make rs398124126(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 237361120 |
| Gene | COL6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124126 |
| dbSNP (classic) | rs398124126 |
| ClinGen | rs398124126 |
| ebi | rs398124126 |
| HLI | rs398124126 |
| Exac | rs398124126 |
| Gnomad | rs398124126 |
| Varsome | rs398124126 |
| LitVar | rs398124126 |
| Map | rs398124126 |
| PheGenI | rs398124126 |
| Biobank | rs398124126 |
| 1000 genomes | rs398124126 |
| hgdp | rs398124126 |
| ensembl | rs398124126 |
| geneview | rs398124126 |
| scholar | rs398124126 |
| rs398124126 | |
| pharmgkb | rs398124126 |
| gwascentral | rs398124126 |
| openSNP | rs398124126 |
| 23andMe | rs398124126 |
| SNPshot | rs398124126 |
| SNPdbe | rs398124126 |
| MSV3d | rs398124126 |
| GWAS Ctlg | rs398124126 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398124126(A;A) |
| Alt | rs398124126(A;A) |
| Reference | Rs398124126(G;G) |
| Significance | Pathogenic |
| Disease | not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
| Variation | info |
| Gene | COL6A3 |
| CLNDBN | not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.238269763C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000080961.3, RCV000175056.1, RCV000355308.1, |
