rs376711003
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs376711003(G;T) |
| Make rs376711003(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 8 |
| Position | 86743617 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376711003 |
| dbSNP (classic) | rs376711003 |
| ClinGen | rs376711003 |
| ebi | rs376711003 |
| HLI | rs376711003 |
| Exac | rs376711003 |
| Gnomad | rs376711003 |
| Varsome | rs376711003 |
| LitVar | rs376711003 |
| Map | rs376711003 |
| PheGenI | rs376711003 |
| Biobank | rs376711003 |
| 1000 genomes | rs376711003 |
| hgdp | rs376711003 |
| ensembl | rs376711003 |
| geneview | rs376711003 |
| scholar | rs376711003 |
| rs376711003 | |
| pharmgkb | rs376711003 |
| gwascentral | rs376711003 |
| openSNP | rs376711003 |
| 23andMe | rs376711003 |
| SNPshot | rs376711003 |
| SNPdbe | rs376711003 |
| MSV3d | rs376711003 |
| GWAS Ctlg | rs376711003 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs376711003(A;A) rs376711003(T;T) |
| Alt | rs376711003(A;A) rs376711003(T;T) |
| Reference | Rs376711003(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Achromatopsia 3 |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Achromatopsia 3 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87755845G>T |
| CLNSRC | |
| CLNACC | RCV000411455.1, |
