rs375907609
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs375907609(C;T) |
| Make rs375907609(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 10 |
| Position | 71811364 |
| Gene | CDH23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375907609 |
| dbSNP (classic) | rs375907609 |
| ClinGen | rs375907609 |
| ebi | rs375907609 |
| HLI | rs375907609 |
| Exac | rs375907609 |
| Gnomad | rs375907609 |
| Varsome | rs375907609 |
| LitVar | rs375907609 |
| Map | rs375907609 |
| PheGenI | rs375907609 |
| Biobank | rs375907609 |
| 1000 genomes | rs375907609 |
| hgdp | rs375907609 |
| ensembl | rs375907609 |
| geneview | rs375907609 |
| scholar | rs375907609 |
| rs375907609 | |
| pharmgkb | rs375907609 |
| gwascentral | rs375907609 |
| openSNP | rs375907609 |
| 23andMe | rs375907609 |
| SNPshot | rs375907609 |
| SNPdbe | rs375907609 |
| MSV3d | rs375907609 |
| GWAS Ctlg | rs375907609 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375907609(A;A) rs375907609(T;T) |
| Alt | rs375907609(A;A) rs375907609(T;T) |
| Reference | Rs375907609(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | CDH23 |
| CLNDBN | Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73571121C>T |
| CLNSRC | |
| CLNACC | RCV000214890.1, |
