rs201329629
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201329629(A;A) |
| Make rs201329629(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26476014 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201329629 |
| dbSNP (classic) | rs201329629 |
| ClinGen | rs201329629 |
| ebi | rs201329629 |
| HLI | rs201329629 |
| Exac | rs201329629 |
| Gnomad | rs201329629 |
| Varsome | rs201329629 |
| LitVar | rs201329629 |
| Map | rs201329629 |
| PheGenI | rs201329629 |
| Biobank | rs201329629 |
| 1000 genomes | rs201329629 |
| hgdp | rs201329629 |
| ensembl | rs201329629 |
| geneview | rs201329629 |
| scholar | rs201329629 |
| rs201329629 | |
| pharmgkb | rs201329629 |
| gwascentral | rs201329629 |
| openSNP | rs201329629 |
| 23andMe | rs201329629 |
| SNPshot | rs201329629 |
| SNPdbe | rs201329629 |
| MSV3d | rs201329629 |
| GWAS Ctlg | rs201329629 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201329629(A;A) rs201329629(C;C) rs201329629(T;T) |
| Alt | rs201329629(A;A) rs201329629(C;C) rs201329629(T;T) |
| Reference | Rs201329629(G;G) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Deafness, autosomal recessive 9 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.26698882G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056032.1, |
