rs2031920
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | carrier of one CYP2E1_-1055C>T allele | |
| (T;T) | CYP2E1_-1055C>T homozygote |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 133526341 |
| Gene | CYP2E1, LOC107984284 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2031920 |
| dbSNP (classic) | rs2031920 |
| ClinGen | rs2031920 |
| ebi | rs2031920 |
| HLI | rs2031920 |
| Exac | rs2031920 |
| Gnomad | rs2031920 |
| Varsome | rs2031920 |
| LitVar | rs2031920 |
| Map | rs2031920 |
| PheGenI | rs2031920 |
| Biobank | rs2031920 |
| 1000 genomes | rs2031920 |
| hgdp | rs2031920 |
| ensembl | rs2031920 |
| geneview | rs2031920 |
| scholar | rs2031920 |
| rs2031920 | |
| pharmgkb | rs2031920 |
| gwascentral | rs2031920 |
| openSNP | rs2031920 |
| 23andMe | rs2031920 |
| SNPshot | rs2031920 |
| SNPdbe | rs2031920 |
| MSV3d | rs2031920 |
| GWAS Ctlg | rs2031920 |
| GMAF | 0.08953 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2031920 is a SNP in the CYP2E1 gene.
The rs2031920(T) allele defines the CYP2E1_-1055C>T variant.
[PMID 20663217
] Genetic Polymorphisms of CYP2E1, GSTP1, NQO1 and MPO and the Risk of Nasopharyngeal Carcinoma in a Han Chinese Population of Southern China
[PMID 22126492] Genetic Polymorphisms of the CYP2E1 Gene do not Contribute to Oral Cancer Susceptibility in South Indians
[PMID 22761909] Synergistic Association of PTGS2 and CYP2E1 Genetic Polymorphisms with Lung Cancer Risk in Northeastern Chinese
[PMID 22815852] Systematic Functional Characterization of Cytochrome P450 2E1 Promoter Variants in the Chinese Han Population
[PMID 15576619] Hematotoxicity in workers exposed to low levels of benzene.
[PMID 17380320] Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population.
[PMID 17885617] Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.
[PMID 17903301] Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
[PMID 18663376] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 19390575] Lung cancer susceptibility model based on age, family history and genetic variants.
[PMID 19537956] CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women.
[PMID 20082485] Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women.
[PMID 20675267] Polymorphisms in GSTT1, GSTZ1, and CYP2E1, disinfection by-products, and risk of bladder cancer in Spain.
[PMID 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.
[PMID 22200898] Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
[PMID 23595220] Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic review and meta-analysis
[PMID 23460870] Cytochrome P450 2E1 gene polymorphisms/haplotypes and anti-tuberculosis drug-induced hepatitis in a Chinese cohort
[PMID 24288753] CYP2E1 Gene Promoter Polymorphism -1293G>C Increases the Risk of Essential Hypertension in Men with Alcohol Abuse
[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 23404349] Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.
[PMID 25017831] N-acetyltransferase and cytochrome P450 2E1 gene polymorphisms and susceptibility to antituberculosis drug hepatotoxicity in an Indian population
| ClinVar | |
|---|---|
| Risk | Rs2031920(T;T) |
| Alt | Rs2031920(T;T) |
| Reference | Rs2031920(C;C) |
| Significance | Other |
| Disease | CYP2E1*5B ALLELE |
| Variation | info |
| Gene | CYP2E1 |
| CLNDBN | CYP2E1*5B ALLELE |
| Reversed | 0 |
| HGVS | NC_000010.10:g.135339845C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000018383.24, |
[PMID 26373042] Polymorphisms in NEIL-2, APE-1, CYP2E1 and MDM2 Genes are Independent Predictors of Gastric Cancer Risk in a Northern Jiangsu Population (China)
[PMID 26582733] [Genetic polymorphism of cytochrome P450 2E1 and the risk of nasopharyngeal carcinoma]
