rs80356591
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356591(-;-) |
| Make rs80356591(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26477474 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356591 |
| dbSNP (classic) | rs80356591 |
| ClinGen | rs80356591 |
| ebi | rs80356591 |
| HLI | rs80356591 |
| Exac | rs80356591 |
| Gnomad | rs80356591 |
| Varsome | rs80356591 |
| LitVar | rs80356591 |
| Map | rs80356591 |
| PheGenI | rs80356591 |
| Biobank | rs80356591 |
| 1000 genomes | rs80356591 |
| hgdp | rs80356591 |
| ensembl | rs80356591 |
| geneview | rs80356591 |
| scholar | rs80356591 |
| rs80356591 | |
| pharmgkb | rs80356591 |
| gwascentral | rs80356591 |
| openSNP | rs80356591 |
| 23andMe | rs80356591 |
| SNPshot | rs80356591 |
| SNPdbe | rs80356591 |
| MSV3d | rs80356591 |
| GWAS Ctlg | rs80356591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356591(-;-) |
| Alt | rs80356591(-;-) |
| Reference | Rs80356591(G;G) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness |
| Reversed | 1 |
| HGVS | NC_000002.11:g.26700342delC |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000021046.4, RCV000211837.1, |
[PMID 12525542
] Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
[PMID 16371502] OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
