rs6471482
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.5 | |
| (C;C) | 0 | common on affy axiom data |
| Make rs6471482(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 86667075 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6471482 |
| dbSNP (classic) | rs6471482 |
| ClinGen | rs6471482 |
| ebi | rs6471482 |
| HLI | rs6471482 |
| Exac | rs6471482 |
| Gnomad | rs6471482 |
| Varsome | rs6471482 |
| LitVar | rs6471482 |
| Map | rs6471482 |
| PheGenI | rs6471482 |
| Biobank | rs6471482 |
| 1000 genomes | rs6471482 |
| hgdp | rs6471482 |
| ensembl | rs6471482 |
| geneview | rs6471482 |
| scholar | rs6471482 |
| rs6471482 | |
| pharmgkb | rs6471482 |
| gwascentral | rs6471482 |
| openSNP | rs6471482 |
| 23andMe | rs6471482 |
| SNPshot | rs6471482 |
| SNPdbe | rs6471482 |
| MSV3d | rs6471482 |
| GWAS Ctlg | rs6471482 |
| GMAF | 0.06841 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs6471482(C;C) |
| Alt | Rs6471482(C;C) |
| Reference | Rs6471482(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Achromatopsia Stargardt Disease |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | not specified Achromatopsia Stargardt Disease, Recessive |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87679303A>C |
| CLNSRC | |
| CLNACC | RCV000250693.1, RCV000310169.1, RCV000364988.1, |
