rs566415362
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs566415362(C;G) |
| Make rs566415362(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 22255400 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs566415362 |
| dbSNP (classic) | rs566415362 |
| ClinGen | rs566415362 |
| ebi | rs566415362 |
| HLI | rs566415362 |
| Exac | rs566415362 |
| Gnomad | rs566415362 |
| Varsome | rs566415362 |
| LitVar | rs566415362 |
| Map | rs566415362 |
| PheGenI | rs566415362 |
| Biobank | rs566415362 |
| 1000 genomes | rs566415362 |
| hgdp | rs566415362 |
| ensembl | rs566415362 |
| geneview | rs566415362 |
| scholar | rs566415362 |
| rs566415362 | |
| pharmgkb | rs566415362 |
| gwascentral | rs566415362 |
| openSNP | rs566415362 |
| 23andMe | rs566415362 |
| SNPshot | rs566415362 |
| SNPdbe | rs566415362 |
| MSV3d | rs566415362 |
| GWAS Ctlg | rs566415362 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs566415362(G;G) rs566415362(T;T) |
| Alt | rs566415362(G;G) rs566415362(T;T) |
| Reference | Rs566415362(C;C) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3 |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22276946C>T |
| CLNSRC | Quest Diagnostics |
| CLNACC | RCV000201148.2, RCV000396590.1, |
