rs111706634
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111706634(C;T) |
| Make rs111706634(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 178456149 |
| Gene | DFNB59 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111706634 |
| dbSNP (classic) | rs111706634 |
| ClinGen | rs111706634 |
| ebi | rs111706634 |
| HLI | rs111706634 |
| Exac | rs111706634 |
| Gnomad | rs111706634 |
| Varsome | rs111706634 |
| LitVar | rs111706634 |
| Map | rs111706634 |
| PheGenI | rs111706634 |
| Biobank | rs111706634 |
| 1000 genomes | rs111706634 |
| hgdp | rs111706634 |
| ensembl | rs111706634 |
| geneview | rs111706634 |
| scholar | rs111706634 |
| rs111706634 | |
| pharmgkb | rs111706634 |
| gwascentral | rs111706634 |
| openSNP | rs111706634 |
| 23andMe | rs111706634 |
| SNPshot | rs111706634 |
| SNPdbe | rs111706634 |
| MSV3d | rs111706634 |
| GWAS Ctlg | rs111706634 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111706634(A;A) rs111706634(T;T) |
| Alt | rs111706634(A;A) rs111706634(T;T) |
| Reference | Rs111706634(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | DFNB59 |
| CLNDBN | Deafness, autosomal recessive 59 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179320876C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001360.2, |
