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rs3813867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) CYP2E1_-1295G>C homozygote
(C;G) carrier of one CYP2E1_-1295G>C allele
(G;G) 0 normal
ReferenceGRCh38 38.1/142
Chromosome10
Position133526101
GeneCYP2E1
is asnp
is mentioned by
dbSNPrs3813867
ebirs3813867
HLIrs3813867
Exacrs3813867
Varsomers3813867
Maprs3813867
PheGenIrs3813867
hapmaprs3813867
1000 genomesrs3813867
hgdprs3813867
ensemblrs3813867
gopubmedrs3813867
geneviewrs3813867
scholarrs3813867
googlers3813867
pharmgkbrs3813867
gwascentralrs3813867
openSNPrs3813867
23andMers3813867
23andMe allrs3813867
SNP Nexus

SNPshotrs3813867
SNPdbers3813867
MSV3drs3813867
GWAS Ctlgrs3813867
GMAF0.1006
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Also known as CYP2E1_-1295G>C, this SNP is reported to mark the c2 allele of CYP2E1.

[PMID 19274602OA-icon.png]

The rs3813867(C) allele defines the CYP2E1_-1295G>C variant allele.

OMIM124040
DescCYTOCHROME P450, SUBFAMILY IIE; CYP2E1
Variant
Relatedalso
OMIM124040
Desc
Variant0001
Relatedalso


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[PMID 17116718OA-icon.png] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.


[PMID 17380320] Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population.


[PMID 18663376OA-icon.png] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.


[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.


[PMID 18992148OA-icon.png] 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 19537956OA-icon.png] CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women.


[PMID 20511665OA-icon.png] Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis.


[PMID 20663217OA-icon.png] 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 23130019OA-icon.png] 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,



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[PMID 25945422OA-icon.png] 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.