rs201527662
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs201527662(A;C) |
| Make rs201527662(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 216246592 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201527662 |
| dbSNP (classic) | rs201527662 |
| ClinGen | rs201527662 |
| ebi | rs201527662 |
| HLI | rs201527662 |
| Exac | rs201527662 |
| Gnomad | rs201527662 |
| Varsome | rs201527662 |
| LitVar | rs201527662 |
| Map | rs201527662 |
| PheGenI | rs201527662 |
| Biobank | rs201527662 |
| 1000 genomes | rs201527662 |
| hgdp | rs201527662 |
| ensembl | rs201527662 |
| geneview | rs201527662 |
| scholar | rs201527662 |
| rs201527662 | |
| pharmgkb | rs201527662 |
| gwascentral | rs201527662 |
| openSNP | rs201527662 |
| 23andMe | rs201527662 |
| SNPshot | rs201527662 |
| SNPdbe | rs201527662 |
| MSV3d | rs201527662 |
| GWAS Ctlg | rs201527662 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201527662(C;C) |
| Alt | rs201527662(C;C) |
| Reference | Rs201527662(A;A) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Retinitis pigmentosa |
| Reversed | 0 |
| HGVS | NC_000001.10:g.216419934A>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000132710.1, |
