rs775796581
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GGAGTCTG;GGAGTCTG) | 0 | common in clinvar |
| Make rs775796581(-;-) |
| Make rs775796581(-;GGAGTCTG) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 8 |
| Position | 86666951 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775796581 |
| dbSNP (classic) | rs775796581 |
| ClinGen | rs775796581 |
| ebi | rs775796581 |
| HLI | rs775796581 |
| Exac | rs775796581 |
| Gnomad | rs775796581 |
| Varsome | rs775796581 |
| LitVar | rs775796581 |
| Map | rs775796581 |
| PheGenI | rs775796581 |
| Biobank | rs775796581 |
| 1000 genomes | rs775796581 |
| hgdp | rs775796581 |
| ensembl | rs775796581 |
| geneview | rs775796581 |
| scholar | rs775796581 |
| rs775796581 | |
| pharmgkb | rs775796581 |
| gwascentral | rs775796581 |
| openSNP | rs775796581 |
| 23andMe | rs775796581 |
| SNPshot | rs775796581 |
| SNPdbe | rs775796581 |
| MSV3d | rs775796581 |
| GWAS Ctlg | rs775796581 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs775796581(-;-) |
| Alt | rs775796581(-;-) |
| Reference | Rs775796581(GGAGTCTG;GGAGTCTG) |
| Significance | Pathogenic |
| Disease | Abnormal electroretinogram Nystagmus |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Abnormal electroretinogram Nystagmus |
| Reversed | 0 |
| HGVS | NC_000008.10:g.87679179_87679186delGGAGTCTG |
| CLNSRC | |
| CLNACC | RCV000415035.1, |
