rs3735967
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs3735967(C;C) |
| Make rs3735967(C;T) |
| Make rs3735967(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 86666870 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3735967 |
| dbSNP (classic) | rs3735967 |
| ClinGen | rs3735967 |
| ebi | rs3735967 |
| HLI | rs3735967 |
| Exac | rs3735967 |
| Gnomad | rs3735967 |
| Varsome | rs3735967 |
| LitVar | rs3735967 |
| Map | rs3735967 |
| PheGenI | rs3735967 |
| Biobank | rs3735967 |
| 1000 genomes | rs3735967 |
| hgdp | rs3735967 |
| ensembl | rs3735967 |
| geneview | rs3735967 |
| scholar | rs3735967 |
| rs3735967 | |
| pharmgkb | rs3735967 |
| gwascentral | rs3735967 |
| openSNP | rs3735967 |
| 23andMe | rs3735967 |
| SNPshot | rs3735967 |
| SNPdbe | rs3735967 |
| MSV3d | rs3735967 |
| GWAS Ctlg | rs3735967 |
| GMAF | 0.3779 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.[PMID 17265047]
