rs761357250
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs761357250(C;T) |
| Make rs761357250(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 161819693 |
| Gene | ATF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761357250 |
| dbSNP (classic) | rs761357250 |
| ClinGen | rs761357250 |
| ebi | rs761357250 |
| HLI | rs761357250 |
| Exac | rs761357250 |
| Gnomad | rs761357250 |
| Varsome | rs761357250 |
| LitVar | rs761357250 |
| Map | rs761357250 |
| PheGenI | rs761357250 |
| Biobank | rs761357250 |
| 1000 genomes | rs761357250 |
| hgdp | rs761357250 |
| ensembl | rs761357250 |
| geneview | rs761357250 |
| scholar | rs761357250 |
| rs761357250 | |
| pharmgkb | rs761357250 |
| gwascentral | rs761357250 |
| openSNP | rs761357250 |
| 23andMe | rs761357250 |
| SNPshot | rs761357250 |
| SNPdbe | rs761357250 |
| MSV3d | rs761357250 |
| GWAS Ctlg | rs761357250 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs761357250(T;T) |
| Alt | rs761357250(T;T) |
| Reference | Rs761357250(C;C) |
| Significance | Pathogenic |
| Disease | Achromatopsia 7 |
| Variation | info |
| Gene | ATF6 |
| CLNDBN | Achromatopsia 7 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.161789483C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000190368.4, |
