rs773372519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs773372519(A;C) |
| Make rs773372519(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 86644689 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773372519 |
| dbSNP (classic) | rs773372519 |
| ClinGen | rs773372519 |
| ebi | rs773372519 |
| HLI | rs773372519 |
| Exac | rs773372519 |
| Gnomad | rs773372519 |
| Varsome | rs773372519 |
| LitVar | rs773372519 |
| Map | rs773372519 |
| PheGenI | rs773372519 |
| Biobank | rs773372519 |
| 1000 genomes | rs773372519 |
| hgdp | rs773372519 |
| ensembl | rs773372519 |
| geneview | rs773372519 |
| scholar | rs773372519 |
| rs773372519 | |
| pharmgkb | rs773372519 |
| gwascentral | rs773372519 |
| openSNP | rs773372519 |
| 23andMe | rs773372519 |
| SNPshot | rs773372519 |
| SNPdbe | rs773372519 |
| MSV3d | rs773372519 |
| GWAS Ctlg | rs773372519 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs773372519(C;C) rs773372519(G;G) |
| Alt | rs773372519(C;C) rs773372519(G;G) |
| Reference | Rs773372519(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Achromatopsia 3 |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Achromatopsia 3 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87656917A>C |
| CLNSRC | |
| CLNACC | RCV000169173.1, |
