rs749909863
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs749909863(C;T) |
| Make rs749909863(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 64230600 |
| Gene | EYS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749909863 |
| dbSNP (classic) | rs749909863 |
| ClinGen | rs749909863 |
| ebi | rs749909863 |
| HLI | rs749909863 |
| Exac | rs749909863 |
| Gnomad | rs749909863 |
| Varsome | rs749909863 |
| LitVar | rs749909863 |
| Map | rs749909863 |
| PheGenI | rs749909863 |
| Biobank | rs749909863 |
| 1000 genomes | rs749909863 |
| hgdp | rs749909863 |
| ensembl | rs749909863 |
| geneview | rs749909863 |
| scholar | rs749909863 |
| rs749909863 | |
| pharmgkb | rs749909863 |
| gwascentral | rs749909863 |
| openSNP | rs749909863 |
| 23andMe | rs749909863 |
| SNPshot | rs749909863 |
| SNPdbe | rs749909863 |
| MSV3d | rs749909863 |
| GWAS Ctlg | rs749909863 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749909863(T;T) |
| Alt | rs749909863(T;T) |
| Reference | Rs749909863(C;C) |
| Significance | Pathogenic |
| Disease | not specified Retinitis pigmentosa 25 |
| Variation | info |
| Gene | EYS |
| CLNDBN | not specified Retinitis pigmentosa 25 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.64940493C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169660.1, RCV000177524.1, |
