rs199766465
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199766465(C;G) |
| Make rs199766465(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26463969 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199766465 |
| dbSNP (classic) | rs199766465 |
| ClinGen | rs199766465 |
| ebi | rs199766465 |
| HLI | rs199766465 |
| Exac | rs199766465 |
| Gnomad | rs199766465 |
| Varsome | rs199766465 |
| LitVar | rs199766465 |
| Map | rs199766465 |
| PheGenI | rs199766465 |
| Biobank | rs199766465 |
| 1000 genomes | rs199766465 |
| hgdp | rs199766465 |
| ensembl | rs199766465 |
| geneview | rs199766465 |
| scholar | rs199766465 |
| rs199766465 | |
| pharmgkb | rs199766465 |
| gwascentral | rs199766465 |
| openSNP | rs199766465 |
| 23andMe | rs199766465 |
| SNPshot | rs199766465 |
| SNPdbe | rs199766465 |
| MSV3d | rs199766465 |
| GWAS Ctlg | rs199766465 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199766465(G;G) |
| Alt | rs199766465(G;G) |
| Reference | Rs199766465(C;C) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness not provided |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.26686837C>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000056047.4, RCV000195955.1, RCV000211734.1, RCV000413616.1, |
