rs146733615
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs146733615(A;A) |
| Make rs146733615(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 215640723 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146733615 |
| dbSNP (classic) | rs146733615 |
| ClinGen | rs146733615 |
| ebi | rs146733615 |
| HLI | rs146733615 |
| Exac | rs146733615 |
| Gnomad | rs146733615 |
| Varsome | rs146733615 |
| LitVar | rs146733615 |
| Map | rs146733615 |
| PheGenI | rs146733615 |
| Biobank | rs146733615 |
| 1000 genomes | rs146733615 |
| hgdp | rs146733615 |
| ensembl | rs146733615 |
| geneview | rs146733615 |
| scholar | rs146733615 |
| rs146733615 | |
| pharmgkb | rs146733615 |
| gwascentral | rs146733615 |
| openSNP | rs146733615 |
| 23andMe | rs146733615 |
| SNPshot | rs146733615 |
| SNPdbe | rs146733615 |
| MSV3d | rs146733615 |
| GWAS Ctlg | rs146733615 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146733615(A;A) |
| Alt | rs146733615(A;A) |
| Reference | Rs146733615(G;G) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa 39 Usher syndrome |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Retinitis pigmentosa 39 Usher syndrome, type 2A |
| Reversed | 0 |
| HGVS | NC_000001.10:g.215814065G>A |
| CLNSRC | |
| CLNACC | RCV000154377.1, RCV000410556.1, RCV000411616.1, |
