rs782255281
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs782255281(A;A) |
| Make rs782255281(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 77175392 |
| Gene | MYO7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782255281 |
| dbSNP (classic) | rs782255281 |
| ClinGen | rs782255281 |
| ebi | rs782255281 |
| HLI | rs782255281 |
| Exac | rs782255281 |
| Gnomad | rs782255281 |
| Varsome | rs782255281 |
| LitVar | rs782255281 |
| Map | rs782255281 |
| PheGenI | rs782255281 |
| Biobank | rs782255281 |
| 1000 genomes | rs782255281 |
| hgdp | rs782255281 |
| ensembl | rs782255281 |
| geneview | rs782255281 |
| scholar | rs782255281 |
| rs782255281 | |
| pharmgkb | rs782255281 |
| gwascentral | rs782255281 |
| openSNP | rs782255281 |
| 23andMe | rs782255281 |
| SNPshot | rs782255281 |
| SNPdbe | rs782255281 |
| MSV3d | rs782255281 |
| GWAS Ctlg | rs782255281 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs782255281(A;A) |
| Alt | rs782255281(A;A) |
| Reference | Rs782255281(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | MYO7A |
| CLNDBN | Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.76886438C>A |
| CLNSRC | |
| CLNACC | RCV000220369.1, |
