{{Rsnum
|rsid=2234922
|Gene=EPHX1
|Chromosome=1
|position=225838705
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1846
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EPHX1
}}[[rs2234922]], also known as His139Arg, is a SNP in the microsomal epoxide hydrolase [[EPHX1]] gene.

{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 63.7 | 31.0 | 5.3
| HCB | 80.3 | 18.2 | 1.5
| JPT | 76.8 | 20.5 | 2.7
| YRI | 37.4 | 44.9 | 17.7
| ASW | 54.4 | 40.4 | 5.3
| CHB | 80.3 | 18.2 | 1.5
| CHD | 82.4 | 17.6 | 0.0
| GIH | 67.3 | 26.7 | 5.9
| LWK | 45.0 | 44.0 | 11.0
| MEX | 74.1 | 25.9 | 0.0
| MKK | 55.1 | 38.5 | 6.4
| TSI | 71.6 | 28.4 | 0.0
| HapMapRevision=28
}}{{omim
|desc=EPOXIDE HYDROLASE POLYMORPHISM
|id=132810
|rsnum=2234922
|variant=0002
}}

{{PharmGKB
|RSID=rs2234922
|Name_s=EPHX1: H139R; 416A>G
|Gene_s=EPHX1
|Feature=
|Evidence=PubMed ID:19952982
|Annotation=Risk or phenotype-associated allele: G. Phenotype: In a logistic regression model adjusted for history of phenytoin use during the first trimester and maternal epilepsy, the maternal EPHX1 139 R (rs2234922A/G) allele was associated with craniofacial abnormalities in the child. Study size: 157 pregnancies. Study population/ethnicity: phenytoin use during the first trimester and maternal epilepsy. metric(s): per rare allele OR: 2.33, 95% CI: 1.09-5.00, P=0.03. Type of association: GN.
|Drugs=phenytoin
|Drug Classes=
|Diseases=Craniofacial Abnormalities
|Curation Level=Curated
|PharmGKB Accession ID=PA165110662
}}

{{PharmGKB
|RSID=rs2234922
|Name_s=EPHX1: H139R; NM_000120.2: c.416A>G; NT_004559.13: g.2228559A>G
|Gene_s=EPHX1
|Feature=
|Evidence=PubMed ID:15692831
|Annotation=Significantly increased and decreased carbamazepine-10,11-diol/carbamazepine-10,11-epoxide ratios were observed with the block 2 *2 haplotype harboring only 337T>C (Y113H) and the block 3 *2 haplotype harboring 416A>G (H139R), IVS3-114G>C and mostly 1071C>T (N357N). The allele frequencies for H139R (416A>G) was 0.135 in this study of 96 Japanese epileptic patients.
|Drugs=carbamazepine
|Drug Classes=
|Diseases=Epilepsy
|Curation Level=Curated
|PharmGKB Accession ID=PA163961474
}}

{{PharmGKB
|RSID=rs2234922
|Name_s=2234922 A/G EPHX1
|Gene_s=EPHX1
|Feature=
|Evidence=PubMed ID:20157331
|Annotation=Risk or phenotype-associated allele: A. Phenotype: The AA homozygote was associated with higher clearance of docetaxel. Study size: 31. Study population/ethnicity: Patients with Non-Small-Cell Lung Carcinoma. Significance metric(s): Type of association: PK.
|Drugs=docetaxel
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165291794
}}

{{PharmGKB
|RSID=rs2234922
|Name_s=EPHX1, mRNA 691A>G, mRNA 457A>G, p.His139Arg
|Gene_s=EPHX1
|Feature=
|Evidence=PubMed ID:19794411
|Annotation=Risk or phenotype-associated allele: undetermined. Phenotype: The variant allele was not associated with warfarin maintenance dose variability (p = 0.5311). Study size: 283. Study population/ethnicity: Hospitalized Caucasian patients aged 75 years or older, recruited Sep 2002-Nov 2004 in Ivry, France, and Oct 2005-Mar 2008 from 14 French centers. Significance metric(s): not significant. Type of association: GN; PK.
|Drugs=warfarin
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165111650
}}

{{PMID Auto
|PMID=21228414
|Title=Genetic variation in metabolic genes, occupational solvent exposure, and risk of non-hodgkin lymphoma
|OA=1
}}

{{ClinVar
|rsid=2234922
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=225838705
|CHROM=1
|GMAF=0.185
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050368000a0517051f110100
|GENEINFO=EPHX1:2052
|GENE_NAME=EPHX1
|GENE_ID=2052
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.225838705A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8154; 0.1846
|CLNACC=RCV000018079.1
|CLNDBN=EPOXIDE HYDROLASE POLYMORPHISM
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001136018.3:c.416A>G; 132810.0002
|COMMON=1
|Disease=EPOXIDE HYDROLASE POLYMORPHISM
}}

{{PMID|17054776|OA=1
}} The genetics of chronic obstructive pulmonary disease.

{{PMID|17160896|OA=1
}} Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

{{PMID|17548691|OA=1
}} Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.

{{PMID|17686149|OA=1
}} 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|18191955|OA=1
}} Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

{{PMID|18298806|OA=1
}} Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

{{PMID|18603647|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

{{PMID|18632753|OA=1
}} Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

{{PMID|18992263|OA=1
}} Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

{{PMID|19017876|OA=1
}} Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.

{{PMID|19131562|OA=1
}} Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.

{{PMID|19479063|OA=1
}} 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|20233420|OA=1
}} 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|22569204|OA=1
}} PharmGKB summary: phenytoin pathway.

{{GET Evidence
|gene=EPHX1
|aa_change=His139Arg
|aa_change_short=H139R
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2234922
|overall_frequency_n=2666
|overall_frequency_d=10758
|overall_frequency=0.247816
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=3
|webscore=N
|n_web_uneval=8
}}

{{PMID Auto
|PMID=24084248
|Title=The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
}}

{{PMID Auto
|PMID=22987024
|Title=Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23797950
|Title=Microsomal epoxide hydrolase (EPHX1) polymorphisms are associated with aberrant promoter methylation of ERCC3 and hematotoxicity in benzene-exposed workers.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}