rs199476186
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199476186(C;T) |
| Make rs199476186(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 186194538 |
| Gene | CYP4V2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476186 |
| dbSNP (classic) | rs199476186 |
| ClinGen | rs199476186 |
| ebi | rs199476186 |
| HLI | rs199476186 |
| Exac | rs199476186 |
| Gnomad | rs199476186 |
| Varsome | rs199476186 |
| LitVar | rs199476186 |
| Map | rs199476186 |
| PheGenI | rs199476186 |
| Biobank | rs199476186 |
| 1000 genomes | rs199476186 |
| hgdp | rs199476186 |
| ensembl | rs199476186 |
| geneview | rs199476186 |
| scholar | rs199476186 |
| rs199476186 | |
| pharmgkb | rs199476186 |
| gwascentral | rs199476186 |
| openSNP | rs199476186 |
| 23andMe | rs199476186 |
| SNPshot | rs199476186 |
| SNPdbe | rs199476186 |
| MSV3d | rs199476186 |
| GWAS Ctlg | rs199476186 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476186(T;T) |
| Alt | rs199476186(T;T) |
| Reference | Rs199476186(C;C) |
| Significance | Pathogenic |
| Disease | Bietti crystalline corneoretinal dystrophy |
| Variation | info |
| Gene | CYP4V2 |
| CLNDBN | Bietti crystalline corneoretinal dystrophy |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187115692C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032537.2, |
