rs1056837
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1056837(C;C) |
| Make rs1056837(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 38071007 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1056837 |
| dbSNP (classic) | rs1056837 |
| ClinGen | rs1056837 |
| ebi | rs1056837 |
| HLI | rs1056837 |
| Exac | rs1056837 |
| Gnomad | rs1056837 |
| Varsome | rs1056837 |
| LitVar | rs1056837 |
| Map | rs1056837 |
| PheGenI | rs1056837 |
| Biobank | rs1056837 |
| 1000 genomes | rs1056837 |
| hgdp | rs1056837 |
| ensembl | rs1056837 |
| geneview | rs1056837 |
| scholar | rs1056837 |
| rs1056837 | |
| pharmgkb | rs1056837 |
| gwascentral | rs1056837 |
| openSNP | rs1056837 |
| 23andMe | rs1056837 |
| SNPshot | rs1056837 |
| SNPdbe | rs1056837 |
| MSV3d | rs1056837 |
| GWAS Ctlg | rs1056837 |
| GMAF | 0.3783 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[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 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 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[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.
[PMID 20057908] Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
| ClinVar | |
|---|---|
| Risk | rs1056837(A;A) rs1056837(C;C) |
| Alt | rs1056837(A;A) rs1056837(C;C) |
| Reference | Rs1056837(T;T) |
| Significance | 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.38298150A>G |
| CLNSRC | |
| CLNACC | RCV000153125.3, RCV000351205.1, RCV000387120.1, |
[PMID 24320736] Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study
[PMID 23213277] Absence of NR2E1 mutations in patients with aniridia.
[PMID 25027399] Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men
