rs181805996
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs181805996(A;T) |
| Make rs181805996(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26484485 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs181805996 |
| dbSNP (classic) | rs181805996 |
| ClinGen | rs181805996 |
| ebi | rs181805996 |
| HLI | rs181805996 |
| Exac | rs181805996 |
| Gnomad | rs181805996 |
| Varsome | rs181805996 |
| LitVar | rs181805996 |
| Map | rs181805996 |
| PheGenI | rs181805996 |
| Biobank | rs181805996 |
| 1000 genomes | rs181805996 |
| hgdp | rs181805996 |
| ensembl | rs181805996 |
| geneview | rs181805996 |
| scholar | rs181805996 |
| rs181805996 | |
| pharmgkb | rs181805996 |
| gwascentral | rs181805996 |
| openSNP | rs181805996 |
| 23andMe | rs181805996 |
| SNPshot | rs181805996 |
| SNPdbe | rs181805996 |
| MSV3d | rs181805996 |
| GWAS Ctlg | rs181805996 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs181805996(T;T) |
| Alt | rs181805996(T;T) |
| Reference | Rs181805996(A;A) |
| Significance | Pathogenic |
| Disease | not specified Deafness |
| Variation | info |
| Gene | OTOF |
| CLNDBN | not specified Deafness, autosomal recessive 9 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.26707353A>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000041456.3, RCV000056013.1, |
