rs10012
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs10012(C;G) |
| Make rs10012(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 38075247 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10012 |
| dbSNP (classic) | rs10012 |
| ClinGen | rs10012 |
| ebi | rs10012 |
| HLI | rs10012 |
| Exac | rs10012 |
| Gnomad | rs10012 |
| Varsome | rs10012 |
| LitVar | rs10012 |
| Map | rs10012 |
| PheGenI | rs10012 |
| Biobank | rs10012 |
| 1000 genomes | rs10012 |
| hgdp | rs10012 |
| ensembl | rs10012 |
| geneview | rs10012 |
| scholar | rs10012 |
| rs10012 | |
| pharmgkb | rs10012 |
| gwascentral | rs10012 |
| openSNP | rs10012 |
| 23andMe | rs10012 |
| SNPshot | rs10012 |
| SNPdbe | rs10012 |
| MSV3d | rs10012 |
| GWAS Ctlg | rs10012 |
| GMAF | 0.3356 |
| Max Magnitude | 0 |
[PMID 20701755
] Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
[PMID 16172230] Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.
[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 17116718] Dietary phytoestrogen intake is associated with reduced 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 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 18628428] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
[PMID 18632753] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
[PMID 18763031] CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.
[PMID 18989382] Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
[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.
| ClinVar | |
|---|---|
| Risk | rs10012(G;G) |
| Alt | rs10012(G;G) |
| Reference | Rs10012(C;C) |
| 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.38302390G>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000078125.5, RCV000276102.1, |
[PMID 23213277] Absence of NR2E1 mutations in patients with aniridia.
[PMID 25027399] Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men
[PMID 25796598] Polymorphisms of the CYP1B1 gene and Hepatocellular Cancer Risk in a Chinese Population
