rs149684063
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs149684063(A;G) |
| Make rs149684063(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 186196042 |
| Gene | CYP4V2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149684063 |
| dbSNP (classic) | rs149684063 |
| ClinGen | rs149684063 |
| ebi | rs149684063 |
| HLI | rs149684063 |
| Exac | rs149684063 |
| Gnomad | rs149684063 |
| Varsome | rs149684063 |
| LitVar | rs149684063 |
| Map | rs149684063 |
| PheGenI | rs149684063 |
| Biobank | rs149684063 |
| 1000 genomes | rs149684063 |
| hgdp | rs149684063 |
| ensembl | rs149684063 |
| geneview | rs149684063 |
| scholar | rs149684063 |
| rs149684063 | |
| pharmgkb | rs149684063 |
| gwascentral | rs149684063 |
| openSNP | rs149684063 |
| 23andMe | rs149684063 |
| SNPshot | rs149684063 |
| SNPdbe | rs149684063 |
| MSV3d | rs149684063 |
| GWAS Ctlg | rs149684063 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149684063(G;G) |
| Alt | rs149684063(G;G) |
| Reference | Rs149684063(A;A) |
| Significance | Other |
| Disease | Bietti crystalline corneoretinal dystrophy not provided Corneal Dystrophy |
| Variation | info |
| Gene | CYP4V2 |
| CLNDBN | Bietti crystalline corneoretinal dystrophy not provided Corneal Dystrophy, Recessive |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187117196A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000032541.4, RCV000132718.1, RCV000260520.1, |
