rs796051882
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs796051882(A;G) |
| Make rs796051882(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 15988237 |
| Gene | PROM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796051882 |
| dbSNP (classic) | rs796051882 |
| ClinGen | rs796051882 |
| ebi | rs796051882 |
| HLI | rs796051882 |
| Exac | rs796051882 |
| Gnomad | rs796051882 |
| Varsome | rs796051882 |
| LitVar | rs796051882 |
| Map | rs796051882 |
| PheGenI | rs796051882 |
| Biobank | rs796051882 |
| 1000 genomes | rs796051882 |
| hgdp | rs796051882 |
| ensembl | rs796051882 |
| geneview | rs796051882 |
| scholar | rs796051882 |
| rs796051882 | |
| pharmgkb | rs796051882 |
| gwascentral | rs796051882 |
| openSNP | rs796051882 |
| 23andMe | rs796051882 |
| SNPshot | rs796051882 |
| SNPdbe | rs796051882 |
| MSV3d | rs796051882 |
| GWAS Ctlg | rs796051882 |
| Max Magnitude | 0 |
Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
| ClinVar | |
|---|---|
| Risk | rs796051882(G;G) |
| Alt | rs796051882(G;G) |
| Reference | Rs796051882(A;A) |
| Significance | Pathogenic |
| Disease | Cone-rod dystrophy 2 |
| Variation | info |
| Gene | PROM1 |
| CLNDBN | Cone-rod dystrophy 2 |
| Reversed | 1 |
| HGVS | NC_000004.11:g.15989860T>C |
| CLNSRC | |
| CLNACC | RCV000186496.2, |
