rs758718347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs758718347(C;T) |
| Make rs758718347(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 5 |
| Position | 90692782 |
| Gene | ADGRV1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758718347 |
| dbSNP (classic) | rs758718347 |
| ClinGen | rs758718347 |
| ebi | rs758718347 |
| HLI | rs758718347 |
| Exac | rs758718347 |
| Gnomad | rs758718347 |
| Varsome | rs758718347 |
| LitVar | rs758718347 |
| Map | rs758718347 |
| PheGenI | rs758718347 |
| Biobank | rs758718347 |
| 1000 genomes | rs758718347 |
| hgdp | rs758718347 |
| ensembl | rs758718347 |
| geneview | rs758718347 |
| scholar | rs758718347 |
| rs758718347 | |
| pharmgkb | rs758718347 |
| gwascentral | rs758718347 |
| openSNP | rs758718347 |
| 23andMe | rs758718347 |
| SNPshot | rs758718347 |
| SNPdbe | rs758718347 |
| MSV3d | rs758718347 |
| GWAS Ctlg | rs758718347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs758718347(T;T) |
| Alt | rs758718347(T;T) |
| Reference | Rs758718347(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | GPR98 ADGRV1 |
| CLNDBN | Usher syndrome, type 2C |
| Reversed | 0 |
| HGVS | NC_000005.9:g.89988599C>T |
| CLNSRC | |
| CLNACC | RCV000214702.1, |
