rs111033283
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033283(A;A) |
| Make rs111033283(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 77156909 |
| Gene | MYO7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033283 |
| dbSNP (classic) | rs111033283 |
| ClinGen | rs111033283 |
| ebi | rs111033283 |
| HLI | rs111033283 |
| Exac | rs111033283 |
| Gnomad | rs111033283 |
| Varsome | rs111033283 |
| LitVar | rs111033283 |
| Map | rs111033283 |
| PheGenI | rs111033283 |
| Biobank | rs111033283 |
| 1000 genomes | rs111033283 |
| hgdp | rs111033283 |
| ensembl | rs111033283 |
| geneview | rs111033283 |
| scholar | rs111033283 |
| rs111033283 | |
| pharmgkb | rs111033283 |
| gwascentral | rs111033283 |
| openSNP | rs111033283 |
| 23andMe | rs111033283 |
| SNPshot | rs111033283 |
| SNPdbe | rs111033283 |
| MSV3d | rs111033283 |
| GWAS Ctlg | rs111033283 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033283(A;A) |
| Alt | rs111033283(A;A) |
| Reference | Rs111033283(G;G) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | MYO7A |
| CLNDBN | Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.76867955G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036233.3, |
[PMID 9382091
] Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
[PMID 16470552] Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
[PMID 18181211] Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
