rs765262083
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs765262083(C;T) |
| Make rs765262083(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 22262207 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765262083 |
| dbSNP (classic) | rs765262083 |
| ClinGen | rs765262083 |
| ebi | rs765262083 |
| HLI | rs765262083 |
| Exac | rs765262083 |
| Gnomad | rs765262083 |
| Varsome | rs765262083 |
| LitVar | rs765262083 |
| Map | rs765262083 |
| PheGenI | rs765262083 |
| Biobank | rs765262083 |
| 1000 genomes | rs765262083 |
| hgdp | rs765262083 |
| ensembl | rs765262083 |
| geneview | rs765262083 |
| scholar | rs765262083 |
| rs765262083 | |
| pharmgkb | rs765262083 |
| gwascentral | rs765262083 |
| openSNP | rs765262083 |
| 23andMe | rs765262083 |
| SNPshot | rs765262083 |
| SNPdbe | rs765262083 |
| MSV3d | rs765262083 |
| GWAS Ctlg | rs765262083 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765262083(G;G) rs765262083(T;T) |
| Alt | rs765262083(G;G) rs765262083(T;T) |
| Reference | Rs765262083(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.22283753C>G |
| CLNSRC | |
| CLNACC | RCV000175113.1, RCV000175114.1, |
