rs28937591
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 3 | deafness expected |
| Make rs28937591(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26461756 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937591 |
| dbSNP (classic) | rs28937591 |
| ClinGen | rs28937591 |
| ebi | rs28937591 |
| HLI | rs28937591 |
| Exac | rs28937591 |
| Gnomad | rs28937591 |
| Varsome | rs28937591 |
| LitVar | rs28937591 |
| Map | rs28937591 |
| PheGenI | rs28937591 |
| Biobank | rs28937591 |
| 1000 genomes | rs28937591 |
| hgdp | rs28937591 |
| ensembl | rs28937591 |
| geneview | rs28937591 |
| scholar | rs28937591 |
| rs28937591 | |
| pharmgkb | rs28937591 |
| gwascentral | rs28937591 |
| openSNP | rs28937591 |
| 23andMe | rs28937591 |
| SNPshot | rs28937591 |
| SNPdbe | rs28937591 |
| MSV3d | rs28937591 |
| GWAS Ctlg | rs28937591 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs28937591(G;G) |
| Alt | Rs28937591(G;G) |
| Reference | Rs28937591(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Deafness, autosomal recessive 9 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.26684624G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006512.2, |
[PMID 12114484
] Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
