rs369522997
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs369522997(G;G) |
| Make rs369522997(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 216325412 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369522997 |
| dbSNP (classic) | rs369522997 |
| ClinGen | rs369522997 |
| ebi | rs369522997 |
| HLI | rs369522997 |
| Exac | rs369522997 |
| Gnomad | rs369522997 |
| Varsome | rs369522997 |
| LitVar | rs369522997 |
| Map | rs369522997 |
| PheGenI | rs369522997 |
| Biobank | rs369522997 |
| 1000 genomes | rs369522997 |
| hgdp | rs369522997 |
| ensembl | rs369522997 |
| geneview | rs369522997 |
| scholar | rs369522997 |
| rs369522997 | |
| pharmgkb | rs369522997 |
| gwascentral | rs369522997 |
| openSNP | rs369522997 |
| 23andMe | rs369522997 |
| SNPshot | rs369522997 |
| SNPdbe | rs369522997 |
| MSV3d | rs369522997 |
| GWAS Ctlg | rs369522997 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369522997(G;G) |
| Alt | rs369522997(G;G) |
| Reference | Rs369522997(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome Retinitis pigmentosa 39 |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Usher syndrome, type 2A Retinitis pigmentosa 39 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.216498754T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000041668.2, RCV000411779.1, |
