rs41298133
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs41298133(C;T) |
| Make rs41298133(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 77156969 |
| Gene | MYO7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41298133 |
| dbSNP (classic) | rs41298133 |
| ClinGen | rs41298133 |
| ebi | rs41298133 |
| HLI | rs41298133 |
| Exac | rs41298133 |
| Gnomad | rs41298133 |
| Varsome | rs41298133 |
| LitVar | rs41298133 |
| Map | rs41298133 |
| PheGenI | rs41298133 |
| Biobank | rs41298133 |
| 1000 genomes | rs41298133 |
| hgdp | rs41298133 |
| ensembl | rs41298133 |
| geneview | rs41298133 |
| scholar | rs41298133 |
| rs41298133 | |
| pharmgkb | rs41298133 |
| gwascentral | rs41298133 |
| openSNP | rs41298133 |
| 23andMe | rs41298133 |
| SNPshot | rs41298133 |
| SNPdbe | rs41298133 |
| MSV3d | rs41298133 |
| GWAS Ctlg | rs41298133 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41298133(T;T) |
| Alt | rs41298133(T;T) |
| Reference | Rs41298133(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome Usher syndrome |
| Variation | info |
| Gene | MYO7A |
| CLNDBN | Usher syndrome, type 1B Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.76868015C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012622.25, RCV000036246.2, |
[PMID 7870171] Defective myosin VIIA gene responsible for Usher syndrome type 1B.
[PMID 9002678] Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
