Have questions? Visit https://www.reddit.com/r/SNPedia

rs2234922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2234922(A;G)
Make rs2234922(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position225838705
GeneEPHX1
is asnp
is mentioned by
dbSNPrs2234922
ebirs2234922
HLIrs2234922
Exacrs2234922
Varsomers2234922
Maprs2234922
PheGenIrs2234922
hapmaprs2234922
1000 genomesrs2234922
hgdprs2234922
ensemblrs2234922
gopubmedrs2234922
geneviewrs2234922
scholarrs2234922
googlers2234922
pharmgkbrs2234922
gwascentralrs2234922
openSNPrs2234922
23andMers2234922
23andMe allrs2234922
SNP Nexus

SNPshotrs2234922
SNPdbers2234922
MSV3drs2234922
GWAS Ctlgrs2234922
GMAF0.1846
Max Magnitude0
rs2234922, also known as His139Arg, is a SNP in the microsomal epoxide hydrolase EPHX1 gene.
? (A;A) (A;G) (G;G) 28
OMIM132810
DescEPOXIDE HYDROLASE POLYMORPHISM
Variant0002
Relatedalso
[PMID 21228414OA-icon.png] Genetic variation in metabolic genes, occupational solvent exposure, and risk of non-hodgkin lymphoma


ClinVar
Risk rs2234922(G,T;G,T)
Alt rs2234922(G,T;G,T)
Reference rs2234922(A;A)
Significance Drug-response
Disease EPOXIDE HYDROLASE POLYMORPHISM carbamazepine response - Dosage
Variation info
Gene EPHX1
CLNDBN EPOXIDE HYDROLASE POLYMORPHISM carbamazepine response - Dosage
Reversed 0
HGVS NC_000001.10:g.226026406A>G
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000018079.3, RCV000211258.1,



[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.

[PMID 17160896OA-icon.png] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

[PMID 17548691OA-icon.png] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.

[PMID 17686149OA-icon.png] Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery.

[PMID 17885617] Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

[PMID 18992263OA-icon.png] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

[PMID 19017876OA-icon.png] Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.

[PMID 19131562OA-icon.png] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.

[PMID 19479063OA-icon.png] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

[PMID 20091863] Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer.

[PMID 20233420OA-icon.png] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.

[PMID 20932192] Microsomal epoxide hydrolase gene polymorphisms and susceptibility to chronic obstructive pulmonary disease in the Tunisian population.

[PMID 21453055] Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians.

[PMID 21653646] Genetically lowered microsomal epoxide hydrolase activity and tobacco-related cancer in 47,000 individuals.

[PMID 22200898] Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).

[PMID 22569204OA-icon.png] PharmGKB summary: phenytoin pathway.


GET Evidence
EPHX1-H139R
aa_change His139Arg
aa_change_short H139R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.247816
summary



[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes


[PMID 22987024] Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.


[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.


[PMID 23797950] Microsomal epoxide hydrolase (EPHX1) polymorphisms are associated with aberrant promoter methylation of ERCC3 and hematotoxicity in benzene-exposed workers.


[PMID 26653643] [Gene variance in microsomal epoxide hydrolase and the susceptibility of coal workers' pneumoconiosis].