rs3813867
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | CYP2E1_-1295G>C homozygote | |
| (C;G) | carrier of one CYP2E1_-1295G>C allele | |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 133526101 |
| Gene | CYP2E1, LOC107984284 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3813867 |
| dbSNP (classic) | rs3813867 |
| ClinGen | rs3813867 |
| ebi | rs3813867 |
| HLI | rs3813867 |
| Exac | rs3813867 |
| Gnomad | rs3813867 |
| Varsome | rs3813867 |
| LitVar | rs3813867 |
| Map | rs3813867 |
| PheGenI | rs3813867 |
| Biobank | rs3813867 |
| 1000 genomes | rs3813867 |
| hgdp | rs3813867 |
| ensembl | rs3813867 |
| geneview | rs3813867 |
| scholar | rs3813867 |
| rs3813867 | |
| pharmgkb | rs3813867 |
| gwascentral | rs3813867 |
| openSNP | rs3813867 |
| 23andMe | rs3813867 |
| SNPshot | rs3813867 |
| SNPdbe | rs3813867 |
| MSV3d | rs3813867 |
| GWAS Ctlg | rs3813867 |
| GMAF | 0.1006 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
Also known as CYP2E1_-1295G>C, this SNP is reported to mark the c2 allele of CYP2E1.
The rs3813867(C) allele defines the CYP2E1_-1295G>C variant allele.
[PMID 22126492] Genetic Polymorphisms of the CYP2E1 Gene do not Contribute to Oral Cancer Susceptibility in South Indians
[PMID 22606226
] Genetic Polymorphisms in CYP2E1: Association with Schizophrenia Susceptibility and Risperidone Response in the Chinese Han Population
[PMID 17116718] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.
[PMID 17380320] Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population.
[PMID 18663376] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 19267064] [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].
[PMID 19537956] CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women.
[PMID 20511665] Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis.
[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 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.
[PMID 21897271] Analysis of 4 single-nucleotide polymorphisms in relation to cervical dysplasia and cancer development using a high-throughput ligation-detection reaction procedure.
[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 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 25227845] Significant Genotype Difference in the CYP2E1 PstI Polymorphism of Indigenous Groups in Sabah, Malaysia with Asian and Non-Asian Populations
| ClinVar | |
|---|---|
| Risk | Rs3813867(C;C) |
| Alt | Rs3813867(C;C) |
| Reference | Rs3813867(G;G) |
| Significance | Other |
| Disease | CYP2E1*5B ALLELE |
| Variation | info |
| Gene | CYP2E1 |
| CLNDBN | CYP2E1*5B ALLELE |
| Reversed | 0 |
| HGVS | NC_000010.10:g.135339605G>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000018383.24, |
[PMID 25917616] CYP17A1 and CYP2E1 Variants Associated with High Altitude Polycythemia in Tibetans at the Qinghai-Tibetan Plateau
[PMID 25945422] CYP2E1 Rsa Ι/Pst Ι polymorphism and lung cancer susceptibility: a meta-analysis involving 10,947 subjects
[PMID 26925658] Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.
