rs373862340
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs373862340(A;A) |
| Make rs373862340(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 86644671 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373862340 |
| dbSNP (classic) | rs373862340 |
| ClinGen | rs373862340 |
| ebi | rs373862340 |
| HLI | rs373862340 |
| Exac | rs373862340 |
| Gnomad | rs373862340 |
| Varsome | rs373862340 |
| LitVar | rs373862340 |
| Map | rs373862340 |
| PheGenI | rs373862340 |
| Biobank | rs373862340 |
| 1000 genomes | rs373862340 |
| hgdp | rs373862340 |
| ensembl | rs373862340 |
| geneview | rs373862340 |
| scholar | rs373862340 |
| rs373862340 | |
| pharmgkb | rs373862340 |
| gwascentral | rs373862340 |
| openSNP | rs373862340 |
| 23andMe | rs373862340 |
| SNPshot | rs373862340 |
| SNPdbe | rs373862340 |
| MSV3d | rs373862340 |
| GWAS Ctlg | rs373862340 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373862340(A;A) |
| Alt | rs373862340(A;A) |
| Reference | Rs373862340(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Achromatopsia 3 |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Achromatopsia 3 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87656899C>A |
| CLNSRC | |
| CLNACC | RCV000169343.1, |
