rs111033174
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs111033174(C;T) | 
| Make rs111033174(T;T) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 11 | 
| Position | 77156683 | 
| Gene | MYO7A | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs111033174 | 
| dbSNP (classic) | rs111033174 | 
| ClinGen | rs111033174 | 
| ebi | rs111033174 | 
| HLI | rs111033174 | 
| Exac | rs111033174 | 
| Gnomad | rs111033174 | 
| Varsome | rs111033174 | 
| LitVar | rs111033174 | 
| Map | rs111033174 | 
| PheGenI | rs111033174 | 
| Biobank | rs111033174 | 
| 1000 genomes | rs111033174 | 
| hgdp | rs111033174 | 
| ensembl | rs111033174 | 
| geneview | rs111033174 | 
| scholar | rs111033174 | 
| rs111033174 | |
| pharmgkb | rs111033174 | 
| gwascentral | rs111033174 | 
| openSNP | rs111033174 | 
| 23andMe | rs111033174 | 
| SNPshot | rs111033174 | 
| SNPdbe | rs111033174 | 
| MSV3d | rs111033174 | 
| GWAS Ctlg | rs111033174 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs111033174(T;T) | 
| Alt | rs111033174(T;T) | 
| Reference | Rs111033174(C;C) | 
| Significance | Pathogenic | 
| Disease | Usher syndrome not provided | 
| Variation | info | 
| Gene | MYO7A | 
| CLNDBN | Usher syndrome, type 1 not provided | 
| Reversed | 0 | 
| HGVS | NC_000011.9:g.76867729C>T | 
| CLNSRC | UniProtKB (protein) | 
| CLNACC | RCV000036169.2, RCV000434773.1, | 
[PMID 15660226] Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.


