rs761129859
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs761129859(A;A) |
| Make rs761129859(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 161821166 |
| Gene | ATF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761129859 |
| dbSNP (classic) | rs761129859 |
| ClinGen | rs761129859 |
| ebi | rs761129859 |
| HLI | rs761129859 |
| Exac | rs761129859 |
| Gnomad | rs761129859 |
| Varsome | rs761129859 |
| LitVar | rs761129859 |
| Map | rs761129859 |
| PheGenI | rs761129859 |
| Biobank | rs761129859 |
| 1000 genomes | rs761129859 |
| hgdp | rs761129859 |
| ensembl | rs761129859 |
| geneview | rs761129859 |
| scholar | rs761129859 |
| rs761129859 | |
| pharmgkb | rs761129859 |
| gwascentral | rs761129859 |
| openSNP | rs761129859 |
| 23andMe | rs761129859 |
| SNPshot | rs761129859 |
| SNPdbe | rs761129859 |
| MSV3d | rs761129859 |
| GWAS Ctlg | rs761129859 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs761129859(A;A) rs761129859(C;C) |
| Alt | rs761129859(A;A) rs761129859(C;C) |
| Reference | Rs761129859(G;G) |
| Significance | Pathogenic |
| Disease | Achromatopsia 7 |
| Variation | info |
| Gene | ATF6 |
| CLNDBN | Achromatopsia 7 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.161790956G>C |
| CLNSRC | |
| CLNACC | RCV000191037.1, |
