rs144109267
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs144109267(A;G) |
| Make rs144109267(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 4 |
| Position | 186209260 |
| Gene | CYP4V2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144109267 |
| dbSNP (classic) | rs144109267 |
| ClinGen | rs144109267 |
| ebi | rs144109267 |
| HLI | rs144109267 |
| Exac | rs144109267 |
| Gnomad | rs144109267 |
| Varsome | rs144109267 |
| LitVar | rs144109267 |
| Map | rs144109267 |
| PheGenI | rs144109267 |
| Biobank | rs144109267 |
| 1000 genomes | rs144109267 |
| hgdp | rs144109267 |
| ensembl | rs144109267 |
| geneview | rs144109267 |
| scholar | rs144109267 |
| rs144109267 | |
| pharmgkb | rs144109267 |
| gwascentral | rs144109267 |
| openSNP | rs144109267 |
| 23andMe | rs144109267 |
| SNPshot | rs144109267 |
| SNPdbe | rs144109267 |
| MSV3d | rs144109267 |
| GWAS Ctlg | rs144109267 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144109267(G;G) |
| Alt | rs144109267(G;G) |
| Reference | Rs144109267(A;A) |
| Significance | Pathogenic |
| Disease | Bietti crystalline corneoretinal dystrophy |
| Variation | info |
| Gene | CYP4V2 |
| CLNDBN | Bietti crystalline corneoretinal dystrophy |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187130414A>G |
| CLNSRC | HGMD |
| CLNACC | RCV000153133.3, |
