rs398124626
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs398124626(-;T) |
| Make rs398124626(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 22250347 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124626 |
| dbSNP (classic) | rs398124626 |
| ClinGen | rs398124626 |
| ebi | rs398124626 |
| HLI | rs398124626 |
| Exac | rs398124626 |
| Gnomad | rs398124626 |
| Varsome | rs398124626 |
| LitVar | rs398124626 |
| Map | rs398124626 |
| PheGenI | rs398124626 |
| Biobank | rs398124626 |
| 1000 genomes | rs398124626 |
| hgdp | rs398124626 |
| ensembl | rs398124626 |
| geneview | rs398124626 |
| scholar | rs398124626 |
| rs398124626 | |
| pharmgkb | rs398124626 |
| gwascentral | rs398124626 |
| openSNP | rs398124626 |
| 23andMe | rs398124626 |
| SNPshot | rs398124626 |
| SNPdbe | rs398124626 |
| MSV3d | rs398124626 |
| GWAS Ctlg | rs398124626 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398124626(T;T) |
| Alt | rs398124626(T;T) |
| Reference | Rs398124626(-;-) |
| Significance | Pathogenic |
| Disease | not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22271893dupT |
| CLNSRC | Quest Diagnostics |
| CLNACC | RCV000082856.4, RCV000173930.2, RCV000173931.3, |
