rs369793306
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs369793306(C;T) |
| Make rs369793306(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 90776485 |
| Gene | ADGRV1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369793306 |
| dbSNP (classic) | rs369793306 |
| ClinGen | rs369793306 |
| ebi | rs369793306 |
| HLI | rs369793306 |
| Exac | rs369793306 |
| Gnomad | rs369793306 |
| Varsome | rs369793306 |
| LitVar | rs369793306 |
| Map | rs369793306 |
| PheGenI | rs369793306 |
| Biobank | rs369793306 |
| 1000 genomes | rs369793306 |
| hgdp | rs369793306 |
| ensembl | rs369793306 |
| geneview | rs369793306 |
| scholar | rs369793306 |
| rs369793306 | |
| pharmgkb | rs369793306 |
| gwascentral | rs369793306 |
| openSNP | rs369793306 |
| 23andMe | rs369793306 |
| SNPshot | rs369793306 |
| SNPdbe | rs369793306 |
| MSV3d | rs369793306 |
| GWAS Ctlg | rs369793306 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369793306(G;G) rs369793306(T;T) |
| Alt | rs369793306(G;G) rs369793306(T;T) |
| Reference | Rs369793306(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | ADGRV1 GPR98 |
| CLNDBN | Usher syndrome, type 2C |
| Reversed | 0 |
| HGVS | NC_000005.9:g.90072302C>T |
| CLNSRC | |
| CLNACC | RCV000416421.1, |
