rs2617266
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2617266(C;T) |
| Make rs2617266(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 38075401 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2617266 |
| dbSNP (classic) | rs2617266 |
| ClinGen | rs2617266 |
| ebi | rs2617266 |
| HLI | rs2617266 |
| Exac | rs2617266 |
| Gnomad | rs2617266 |
| Varsome | rs2617266 |
| LitVar | rs2617266 |
| Map | rs2617266 |
| PheGenI | rs2617266 |
| Biobank | rs2617266 |
| 1000 genomes | rs2617266 |
| hgdp | rs2617266 |
| ensembl | rs2617266 |
| geneview | rs2617266 |
| scholar | rs2617266 |
| rs2617266 | |
| pharmgkb | rs2617266 |
| gwascentral | rs2617266 |
| openSNP | rs2617266 |
| 23andMe | rs2617266 |
| SNPshot | rs2617266 |
| SNPdbe | rs2617266 |
| MSV3d | rs2617266 |
| GWAS Ctlg | rs2617266 |
| GMAF | 0.2612 |
| Max Magnitude | 0 |
[PMID 20057908
] Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients
[PMID 17615053] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
[PMID 18268125] Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.
[PMID 18544568] CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians.
[PMID 18989382] Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
[PMID 19597567] Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
| ClinVar | |
|---|---|
| Risk | rs2617266(T;T) |
| Alt | rs2617266(T;T) |
| Reference | Rs2617266(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Primary congenital glaucoma Peters anomaly |
| Variation | info |
| Gene | CYP1B1 |
| CLNDBN | not specified Primary congenital glaucoma Peters anomaly |
| Reversed | 1 |
| HGVS | NC_000002.11:g.38302544G>A |
| CLNSRC | |
| CLNACC | RCV000153129.4, RCV000287139.1, RCV000341848.1, |
