rs143994166
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs143994166(A;T) |
| Make rs143994166(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 65402507 |
| Gene | EYS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143994166 |
| dbSNP (classic) | rs143994166 |
| ClinGen | rs143994166 |
| ebi | rs143994166 |
| HLI | rs143994166 |
| Exac | rs143994166 |
| Gnomad | rs143994166 |
| Varsome | rs143994166 |
| LitVar | rs143994166 |
| Map | rs143994166 |
| PheGenI | rs143994166 |
| Biobank | rs143994166 |
| 1000 genomes | rs143994166 |
| hgdp | rs143994166 |
| ensembl | rs143994166 |
| geneview | rs143994166 |
| scholar | rs143994166 |
| rs143994166 | |
| pharmgkb | rs143994166 |
| gwascentral | rs143994166 |
| openSNP | rs143994166 |
| 23andMe | rs143994166 |
| SNPshot | rs143994166 |
| SNPdbe | rs143994166 |
| MSV3d | rs143994166 |
| GWAS Ctlg | rs143994166 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143994166(T;T) |
| Alt | rs143994166(T;T) |
| Reference | Rs143994166(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Retinal dystrophy |
| Variation | info |
| Gene | EYS |
| CLNDBN | Retinal dystrophy |
| Reversed | 0 |
| HGVS | NC_000006.11:g.66112400A>T |
| CLNSRC | |
| CLNACC | RCV000225560.1, |
