rs111033232
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTT;CTT) | 0 | common in clinvar |
| Make rs111033232(-;-) |
| Make rs111033232(-;CTT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 77208459 |
| Gene | MYO7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033232 |
| dbSNP (classic) | rs111033232 |
| ClinGen | rs111033232 |
| ebi | rs111033232 |
| HLI | rs111033232 |
| Exac | rs111033232 |
| Gnomad | rs111033232 |
| Varsome | rs111033232 |
| LitVar | rs111033232 |
| Map | rs111033232 |
| PheGenI | rs111033232 |
| Biobank | rs111033232 |
| 1000 genomes | rs111033232 |
| hgdp | rs111033232 |
| ensembl | rs111033232 |
| geneview | rs111033232 |
| scholar | rs111033232 |
| rs111033232 | |
| pharmgkb | rs111033232 |
| gwascentral | rs111033232 |
| openSNP | rs111033232 |
| 23andMe | rs111033232 |
| SNPshot | rs111033232 |
| SNPdbe | rs111033232 |
| MSV3d | rs111033232 |
| GWAS Ctlg | rs111033232 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033232(-;-) |
| Alt | rs111033232(-;-) |
| Reference | Rs111033232(CTT;CTT) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | MYO7A |
| CLNDBN | Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.76919504_76919506delCTT |
| CLNSRC | ClinVar |
| CLNACC | RCV000036213.2, |
[PMID 16679490
] Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
