rs762078182
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs762078182(-;-) |
| Make rs762078182(-;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 4 |
| Position | 15994057 |
| Gene | PROM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762078182 |
| dbSNP (classic) | rs762078182 |
| ClinGen | rs762078182 |
| ebi | rs762078182 |
| HLI | rs762078182 |
| Exac | rs762078182 |
| Gnomad | rs762078182 |
| Varsome | rs762078182 |
| LitVar | rs762078182 |
| Map | rs762078182 |
| PheGenI | rs762078182 |
| Biobank | rs762078182 |
| 1000 genomes | rs762078182 |
| hgdp | rs762078182 |
| ensembl | rs762078182 |
| geneview | rs762078182 |
| scholar | rs762078182 |
| rs762078182 | |
| pharmgkb | rs762078182 |
| gwascentral | rs762078182 |
| openSNP | rs762078182 |
| 23andMe | rs762078182 |
| SNPshot | rs762078182 |
| SNPdbe | rs762078182 |
| MSV3d | rs762078182 |
| GWAS Ctlg | rs762078182 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs762078182(-;-) |
| Alt | rs762078182(-;-) |
| Reference | Rs762078182(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Retinal dystrophy |
| Variation | info |
| Gene | PROM1 |
| CLNDBN | Retinal dystrophy |
| Reversed | 0 |
| HGVS | NC_000004.11:g.15995680delT |
| CLNSRC | |
| CLNACC | RCV000225407.1, |
