rs397515595
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (C;G) | 0 | normal |
| Make rs397515595(-;AGCT) |
| Make rs397515595(AGCT;AGCT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26476258 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515595 |
| dbSNP (classic) | rs397515595 |
| ClinGen | rs397515595 |
| ebi | rs397515595 |
| HLI | rs397515595 |
| Exac | rs397515595 |
| Gnomad | rs397515595 |
| Varsome | rs397515595 |
| LitVar | rs397515595 |
| Map | rs397515595 |
| PheGenI | rs397515595 |
| Biobank | rs397515595 |
| 1000 genomes | rs397515595 |
| hgdp | rs397515595 |
| ensembl | rs397515595 |
| geneview | rs397515595 |
| scholar | rs397515595 |
| rs397515595 | |
| pharmgkb | rs397515595 |
| gwascentral | rs397515595 |
| openSNP | rs397515595 |
| 23andMe | rs397515595 |
| SNPshot | rs397515595 |
| SNPdbe | rs397515595 |
| MSV3d | rs397515595 |
| GWAS Ctlg | rs397515595 |
| Max Magnitude | 0 |
the duplication is considered a recessive mutation associated with a form of deafness
the C/G genotypes, i.e. (C;C), (C;G), and (G;G), appear to be benign polymorphic variants, based on ~0.5 allele frequencies as reported in ExAC
note that somehow this position therefore appears to have nomenclature issues
| ClinVar | |
|---|---|
| Risk | rs397515595(AGCT;AGCT) |
| Alt | rs397515595(AGCT;AGCT) |
| Reference | Rs397515595(-;-) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Deafness, autosomal recessive 9 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.26699127_26699130dupAGCT |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000056031.1, |
