rs148542782
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148542782(A;A) |
| Make rs148542782(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 38071186 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148542782 |
| dbSNP (classic) | rs148542782 |
| ClinGen | rs148542782 |
| ebi | rs148542782 |
| HLI | rs148542782 |
| Exac | rs148542782 |
| Gnomad | rs148542782 |
| Varsome | rs148542782 |
| LitVar | rs148542782 |
| Map | rs148542782 |
| PheGenI | rs148542782 |
| Biobank | rs148542782 |
| 1000 genomes | rs148542782 |
| hgdp | rs148542782 |
| ensembl | rs148542782 |
| geneview | rs148542782 |
| scholar | rs148542782 |
| rs148542782 | |
| pharmgkb | rs148542782 |
| gwascentral | rs148542782 |
| openSNP | rs148542782 |
| 23andMe | rs148542782 |
| SNPshot | rs148542782 |
| SNPdbe | rs148542782 |
| MSV3d | rs148542782 |
| GWAS Ctlg | rs148542782 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148542782(A;A) rs148542782(T;T) |
| Alt | rs148542782(A;A) rs148542782(T;T) |
| Reference | Rs148542782(G;G) |
| Significance | Pathogenic |
| Disease | Peters anomaly Primary congenital glaucoma |
| Variation | info |
| Gene | CYP1B1 |
| CLNDBN | Peters anomaly Primary congenital glaucoma |
| Reversed | 0 |
| HGVS | NC_000002.11:g.38298329G>A |
| CLNSRC | Illumina |
| CLNACC | RCV000307738.1, RCV000396035.1, |
