rs148660051
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs148660051(C;T) |
| Make rs148660051(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 215790168 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148660051 |
| dbSNP (classic) | rs148660051 |
| ClinGen | rs148660051 |
| ebi | rs148660051 |
| HLI | rs148660051 |
| Exac | rs148660051 |
| Gnomad | rs148660051 |
| Varsome | rs148660051 |
| LitVar | rs148660051 |
| Map | rs148660051 |
| PheGenI | rs148660051 |
| Biobank | rs148660051 |
| 1000 genomes | rs148660051 |
| hgdp | rs148660051 |
| ensembl | rs148660051 |
| geneview | rs148660051 |
| scholar | rs148660051 |
| rs148660051 | |
| pharmgkb | rs148660051 |
| gwascentral | rs148660051 |
| openSNP | rs148660051 |
| 23andMe | rs148660051 |
| SNPshot | rs148660051 |
| SNPdbe | rs148660051 |
| MSV3d | rs148660051 |
| GWAS Ctlg | rs148660051 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148660051(T;T) |
| Alt | rs148660051(T;T) |
| Reference | Rs148660051(C;C) |
| Significance | Other |
| Disease | Retinitis pigmentosa 39 Usher syndrome not provided |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Retinitis pigmentosa 39 Usher syndrome, type 2A not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.215963510C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000179099.1, RCV000190637.4, RCV000482080.1, |
