rs13265557
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.1 | rare variation in a gene influencing color perception |
| (T;T) | 0 | common in complete genomics |
| Make rs13265557(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 86647872 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13265557 |
| dbSNP (classic) | rs13265557 |
| ClinGen | rs13265557 |
| ebi | rs13265557 |
| HLI | rs13265557 |
| Exac | rs13265557 |
| Gnomad | rs13265557 |
| Varsome | rs13265557 |
| LitVar | rs13265557 |
| Map | rs13265557 |
| PheGenI | rs13265557 |
| Biobank | rs13265557 |
| 1000 genomes | rs13265557 |
| hgdp | rs13265557 |
| ensembl | rs13265557 |
| geneview | rs13265557 |
| scholar | rs13265557 |
| rs13265557 | |
| pharmgkb | rs13265557 |
| gwascentral | rs13265557 |
| openSNP | rs13265557 |
| 23andMe | rs13265557 |
| SNPshot | rs13265557 |
| SNPdbe | rs13265557 |
| MSV3d | rs13265557 |
| GWAS Ctlg | rs13265557 |
| GMAF | 0.05739 |
| Max Magnitude | 0.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs13265557(C;C) |
| Alt | Rs13265557(C;C) |
| Reference | Rs13265557(T;T) |
| Significance | Probable-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.87660100T>C |
| CLNSRC | |
| CLNACC | RCV000242961.2, RCV000286399.1, RCV000376272.1, |
