rs397517326
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397517326(C;T) |
| Make rs397517326(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 71730517 |
| Gene | CDH23, C10orf105 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397517326 |
| dbSNP (classic) | rs397517326 |
| ClinGen | rs397517326 |
| ebi | rs397517326 |
| HLI | rs397517326 |
| Exac | rs397517326 |
| Gnomad | rs397517326 |
| Varsome | rs397517326 |
| LitVar | rs397517326 |
| Map | rs397517326 |
| PheGenI | rs397517326 |
| Biobank | rs397517326 |
| 1000 genomes | rs397517326 |
| hgdp | rs397517326 |
| ensembl | rs397517326 |
| geneview | rs397517326 |
| scholar | rs397517326 |
| rs397517326 | |
| pharmgkb | rs397517326 |
| gwascentral | rs397517326 |
| openSNP | rs397517326 |
| 23andMe | rs397517326 |
| SNPshot | rs397517326 |
| SNPdbe | rs397517326 |
| MSV3d | rs397517326 |
| GWAS Ctlg | rs397517326 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397517326(T;T) |
| Alt | rs397517326(T;T) |
| Reference | Rs397517326(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | C10orf105 CDH23 |
| CLNDBN | Usher syndrome, type 1D |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73490274C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000039160.2, |
