rs745557293
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs745557293(-;-) |
| Make rs745557293(-;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 8 |
| Position | 86578855 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs745557293 |
| dbSNP (classic) | rs745557293 |
| ClinGen | rs745557293 |
| ebi | rs745557293 |
| HLI | rs745557293 |
| Exac | rs745557293 |
| Gnomad | rs745557293 |
| Varsome | rs745557293 |
| LitVar | rs745557293 |
| Map | rs745557293 |
| PheGenI | rs745557293 |
| Biobank | rs745557293 |
| 1000 genomes | rs745557293 |
| hgdp | rs745557293 |
| ensembl | rs745557293 |
| geneview | rs745557293 |
| scholar | rs745557293 |
| rs745557293 | |
| pharmgkb | rs745557293 |
| gwascentral | rs745557293 |
| openSNP | rs745557293 |
| 23andMe | rs745557293 |
| SNPshot | rs745557293 |
| SNPdbe | rs745557293 |
| MSV3d | rs745557293 |
| GWAS Ctlg | rs745557293 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs745557293(-;-) |
| Alt | rs745557293(-;-) |
| Reference | Rs745557293(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Achromatopsia 3 |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Achromatopsia 3 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87591083delA |
| CLNSRC | |
| CLNACC | RCV000409769.1, |
