rs142027093
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142027093(A;A) |
| Make rs142027093(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 22263044 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142027093 |
| dbSNP (classic) | rs142027093 |
| ClinGen | rs142027093 |
| ebi | rs142027093 |
| HLI | rs142027093 |
| Exac | rs142027093 |
| Gnomad | rs142027093 |
| Varsome | rs142027093 |
| LitVar | rs142027093 |
| Map | rs142027093 |
| PheGenI | rs142027093 |
| Biobank | rs142027093 |
| 1000 genomes | rs142027093 |
| hgdp | rs142027093 |
| ensembl | rs142027093 |
| geneview | rs142027093 |
| scholar | rs142027093 |
| rs142027093 | |
| pharmgkb | rs142027093 |
| gwascentral | rs142027093 |
| openSNP | rs142027093 |
| 23andMe | rs142027093 |
| SNPshot | rs142027093 |
| SNPdbe | rs142027093 |
| MSV3d | rs142027093 |
| GWAS Ctlg | rs142027093 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142027093(A;A) |
| Alt | rs142027093(A;A) |
| Reference | Rs142027093(G;G) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy not provided |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2L not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22284590G>A |
| CLNSRC | |
| CLNACC | RCV000175257.2, RCV000479758.1, |
