rs1056827
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1056827(G;T) |
| Make rs1056827(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 38075034 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1056827 |
| dbSNP (classic) | rs1056827 |
| ClinGen | rs1056827 |
| ebi | rs1056827 |
| HLI | rs1056827 |
| Exac | rs1056827 |
| Gnomad | rs1056827 |
| Varsome | rs1056827 |
| LitVar | rs1056827 |
| Map | rs1056827 |
| PheGenI | rs1056827 |
| Biobank | rs1056827 |
| 1000 genomes | rs1056827 |
| hgdp | rs1056827 |
| ensembl | rs1056827 |
| geneview | rs1056827 |
| scholar | rs1056827 |
| rs1056827 | |
| pharmgkb | rs1056827 |
| gwascentral | rs1056827 |
| openSNP | rs1056827 |
| 23andMe | rs1056827 |
| SNPshot | rs1056827 |
| SNPdbe | rs1056827 |
| MSV3d | rs1056827 |
| GWAS Ctlg | rs1056827 |
| GMAF | 0.3223 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19383894
] Genetic Polymorphisms in the Catechol Estrogen Metabolism Pathway and Breast Cancer Risk
Also known as 355G>T or A119S, the T allele is associated with gene variants CYP1B1*2, CYP1B1*6 and CYP1B1*7.
[PMID 20701755] Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
[PMID 16864595] The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1 and UGT1A1 on urine 1-hydroxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil.
[PMID 17548691] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.
[PMID 18470941] Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
[PMID 18544568] CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians.
[PMID 18763031] CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18989382] Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
[PMID 19479063] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
[PMID 19597567] Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
[PMID 20057908] Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
[PMID 20889730] Cytochrome P450 1B1 gene polymorphisms as predictors of anticancer drug activity: studies with in vitro models.
[PMID 21674184] Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis.
[PMID 23206929] Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population
[PMID 24320736] Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study
[PMID 25027399] Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men
| ClinVar | |
|---|---|
| Risk | rs1056827(T;T) |
| Alt | rs1056827(T;T) |
| Reference | Rs1056827(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Primary congenital glaucoma |
| Variation | info |
| Gene | CYP1B1 |
| CLNDBN | not specified Primary congenital glaucoma |
| Reversed | 1 |
| HGVS | NC_000002.11:g.38302177C>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000078127.5, RCV000370643.1, |
