rs55989760
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs55989760(A;A) |
| Make rs55989760(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 38071195 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55989760 |
| dbSNP (classic) | rs55989760 |
| ClinGen | rs55989760 |
| ebi | rs55989760 |
| HLI | rs55989760 |
| Exac | rs55989760 |
| Gnomad | rs55989760 |
| Varsome | rs55989760 |
| LitVar | rs55989760 |
| Map | rs55989760 |
| PheGenI | rs55989760 |
| Biobank | rs55989760 |
| 1000 genomes | rs55989760 |
| hgdp | rs55989760 |
| ensembl | rs55989760 |
| geneview | rs55989760 |
| scholar | rs55989760 |
| rs55989760 | |
| pharmgkb | rs55989760 |
| gwascentral | rs55989760 |
| openSNP | rs55989760 |
| 23andMe | rs55989760 |
| SNPshot | rs55989760 |
| SNPdbe | rs55989760 |
| MSV3d | rs55989760 |
| GWAS Ctlg | rs55989760 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs55989760(A;A) rs55989760(C;C) |
| Alt | rs55989760(A;A) rs55989760(C;C) |
| Reference | Rs55989760(G;G) |
| Significance | Pathogenic |
| Disease | Glaucoma |
| Variation | info |
| Gene | CYP1B1 |
| CLNDBN | Glaucoma, congenital |
| Reversed | 1 |
| HGVS | NC_000002.11:g.38298338C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008174.4, |
