rs201794629
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201794629(C;G) |
| Make rs201794629(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 86667134 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201794629 |
| dbSNP (classic) | rs201794629 |
| ClinGen | rs201794629 |
| ebi | rs201794629 |
| HLI | rs201794629 |
| Exac | rs201794629 |
| Gnomad | rs201794629 |
| Varsome | rs201794629 |
| LitVar | rs201794629 |
| Map | rs201794629 |
| PheGenI | rs201794629 |
| Biobank | rs201794629 |
| 1000 genomes | rs201794629 |
| hgdp | rs201794629 |
| ensembl | rs201794629 |
| geneview | rs201794629 |
| scholar | rs201794629 |
| rs201794629 | |
| pharmgkb | rs201794629 |
| gwascentral | rs201794629 |
| openSNP | rs201794629 |
| 23andMe | rs201794629 |
| SNPshot | rs201794629 |
| SNPdbe | rs201794629 |
| MSV3d | rs201794629 |
| GWAS Ctlg | rs201794629 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201794629(G;G) |
| Alt | rs201794629(G;G) |
| Reference | Rs201794629(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Achromatopsia 3 |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Achromatopsia 3 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87679362C>G |
| CLNSRC | |
| CLNACC | RCV000169108.1, |
