rs80356586
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs80356586(C;C) |
| Make rs80356586(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26482441 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356586 |
| dbSNP (classic) | rs80356586 |
| ClinGen | rs80356586 |
| ebi | rs80356586 |
| HLI | rs80356586 |
| Exac | rs80356586 |
| Gnomad | rs80356586 |
| Varsome | rs80356586 |
| LitVar | rs80356586 |
| Map | rs80356586 |
| PheGenI | rs80356586 |
| Biobank | rs80356586 |
| 1000 genomes | rs80356586 |
| hgdp | rs80356586 |
| ensembl | rs80356586 |
| geneview | rs80356586 |
| scholar | rs80356586 |
| rs80356586 | |
| pharmgkb | rs80356586 |
| gwascentral | rs80356586 |
| openSNP | rs80356586 |
| 23andMe | rs80356586 |
| SNPshot | rs80356586 |
| SNPdbe | rs80356586 |
| MSV3d | rs80356586 |
| GWAS Ctlg | rs80356586 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356586(C;C) |
| Alt | rs80356586(C;C) |
| Reference | Rs80356586(T;T) |
| Significance | Other |
| Disease | Auditory neuropathy Deafness |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Auditory neuropathy, autosomal recessive, 1 Deafness, autosomal recessive 9 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.26705309A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006517.2, RCV000021035.5, |
[PMID 9657592] Transient deafness due to temperature-sensitive auditory neuropathy.
[PMID 12127154] Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
[PMID 16371502
] OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
