rs72549380
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GAGTGCAGGCAGA;GAGTGCAGGCAGA) | 0 | common in clinvar |
| Make rs72549380(-;-) |
| Make rs72549380(-;GAGTGCAGGCAGA) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 38071278 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549380 |
| dbSNP (classic) | rs72549380 |
| ClinGen | rs72549380 |
| ebi | rs72549380 |
| HLI | rs72549380 |
| Exac | rs72549380 |
| Gnomad | rs72549380 |
| Varsome | rs72549380 |
| LitVar | rs72549380 |
| Map | rs72549380 |
| PheGenI | rs72549380 |
| Biobank | rs72549380 |
| 1000 genomes | rs72549380 |
| hgdp | rs72549380 |
| ensembl | rs72549380 |
| geneview | rs72549380 |
| scholar | rs72549380 |
| rs72549380 | |
| pharmgkb | rs72549380 |
| gwascentral | rs72549380 |
| openSNP | rs72549380 |
| 23andMe | rs72549380 |
| SNPshot | rs72549380 |
| SNPdbe | rs72549380 |
| MSV3d | rs72549380 |
| GWAS Ctlg | rs72549380 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72549380(-;-) |
| Alt | rs72549380(-;-) |
| Reference | Rs72549380(GAGTGCAGGCAGA;GAGTGCAGGCAGA) |
| Significance | Pathogenic |
| Disease | Glaucoma |
| Variation | info |
| Gene | CYP1B1 |
| CLNDBN | Glaucoma, congenital |
| Reversed | 1 |
| HGVS | NC_000002.11:g.38298421_38298433delTCTGCCTGCACTC |
| CLNSRC | |
| CLNACC | RCV000260225.1, |
