rs199501657
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs199501657(A;G) |
| Make rs199501657(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 11 |
| Position | 22221158 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199501657 |
| dbSNP (classic) | rs199501657 |
| ClinGen | rs199501657 |
| ebi | rs199501657 |
| HLI | rs199501657 |
| Exac | rs199501657 |
| Gnomad | rs199501657 |
| Varsome | rs199501657 |
| LitVar | rs199501657 |
| Map | rs199501657 |
| PheGenI | rs199501657 |
| Biobank | rs199501657 |
| 1000 genomes | rs199501657 |
| hgdp | rs199501657 |
| ensembl | rs199501657 |
| geneview | rs199501657 |
| scholar | rs199501657 |
| rs199501657 | |
| pharmgkb | rs199501657 |
| gwascentral | rs199501657 |
| openSNP | rs199501657 |
| 23andMe | rs199501657 |
| SNPshot | rs199501657 |
| SNPdbe | rs199501657 |
| MSV3d | rs199501657 |
| GWAS Ctlg | rs199501657 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199501657(G;G) |
| Alt | rs199501657(G;G) |
| Reference | Rs199501657(A;A) |
| Significance | Other |
| 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.22242704A>G |
| CLNSRC | HGMD |
| CLNACC | RCV000082846.4, RCV000292519.1, RCV000386605.1, |
