rs752982710
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs752982710(-;-) |
| Make rs752982710(-;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 11 |
| Position | 22279543 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752982710 |
| dbSNP (classic) | rs752982710 |
| ClinGen | rs752982710 |
| ebi | rs752982710 |
| HLI | rs752982710 |
| Exac | rs752982710 |
| Gnomad | rs752982710 |
| Varsome | rs752982710 |
| LitVar | rs752982710 |
| Map | rs752982710 |
| PheGenI | rs752982710 |
| Biobank | rs752982710 |
| 1000 genomes | rs752982710 |
| hgdp | rs752982710 |
| ensembl | rs752982710 |
| geneview | rs752982710 |
| scholar | rs752982710 |
| rs752982710 | |
| pharmgkb | rs752982710 |
| gwascentral | rs752982710 |
| openSNP | rs752982710 |
| 23andMe | rs752982710 |
| SNPshot | rs752982710 |
| SNPdbe | rs752982710 |
| MSV3d | rs752982710 |
| GWAS Ctlg | rs752982710 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752982710(-;-) |
| Alt | rs752982710(-;-) |
| Reference | Rs752982710(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2L |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22301089delG |
| CLNSRC | |
| CLNACC | RCV000405726.1, |
