rs373441420
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs373441420(A;A) |
| Make rs373441420(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 64813377 |
| Gene | EYS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373441420 |
| dbSNP (classic) | rs373441420 |
| ClinGen | rs373441420 |
| ebi | rs373441420 |
| HLI | rs373441420 |
| Exac | rs373441420 |
| Gnomad | rs373441420 |
| Varsome | rs373441420 |
| LitVar | rs373441420 |
| Map | rs373441420 |
| PheGenI | rs373441420 |
| Biobank | rs373441420 |
| 1000 genomes | rs373441420 |
| hgdp | rs373441420 |
| ensembl | rs373441420 |
| geneview | rs373441420 |
| scholar | rs373441420 |
| rs373441420 | |
| pharmgkb | rs373441420 |
| gwascentral | rs373441420 |
| openSNP | rs373441420 |
| 23andMe | rs373441420 |
| SNPshot | rs373441420 |
| SNPdbe | rs373441420 |
| MSV3d | rs373441420 |
| GWAS Ctlg | rs373441420 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373441420(A;A) |
| Alt | rs373441420(A;A) |
| Reference | Rs373441420(C;C) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa 25 |
| Variation | info |
| Gene | EYS |
| CLNDBN | Retinitis pigmentosa 25 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.65523270C>A |
| CLNSRC | |
| CLNACC | RCV000176281.1, |
