{{Rsnum
|rsid=1051740
|Gene=EPHX1
|Chromosome=1
|position=225831932
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.3163
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EPHX1
}}[[rs1051740]], also known as Tyr113His, is a SNP in the microsomal epoxide hydrolase [[EPHX1]] gene.

{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 12.4 | 41.6 | 46.0
| HCB | 18.2 | 48.9 | 32.8
| JPT | 23.9 | 45.1 | 31.0
| YRI | 2.7 | 19.7 | 77.6
| ASW | 0.0 | 33.3 | 66.7
| CHB | 18.2 | 48.9 | 32.8
| CHD | 24.5 | 43.4 | 32.1
| GIH | 8.9 | 53.5 | 37.6
| LWK | 0.9 | 31.8 | 67.3
| MEX | 17.2 | 46.6 | 36.2
| MKK | 2.6 | 22.4 | 75.0
| TSI | 10.8 | 39.2 | 50.0
| HapMapRevision=28
}}
{{PMID|19127076}} severe hypersensitivity syndrome, triggered by [[carbamazepine]] in the presence of a concomitant active human herpes virus (HHV) 6 and 7 infection with the allele HLA-A*3101 and rs1051740(C;C)

{{omim
|desc=LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO
|id=132810
|rsnum=1051740
|variant=0001
}}

{{Venter SNP
|rsid=1051740
|allele=C
|frequency=0.325
|uid=1103675352608
|type=heterozygous_SNP
|hugo=EPHX1
|ensembl gene=ENSG00000143819
|ensembl transcript=ENST00000366837
|sift=AFFECT FUNCTION
|disease=Defects in EPHX1 are a cause of familial hypercholanemia (FHCA) (MIM:607748). FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
}}

{{PharmGKB
|RSID=rs1051740
|Name_s=EPHX1: Y113H; 337T>C
|Gene_s=EPHX1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19952982
|Annotation=Risk or phenotype-associated allele: T. Phenotype: In a logistic regression model adjusted for history of phenytoin use during the first trimester and maternal epilepsy, the maternal EPHX1 113 H (rs1051740 T/C) 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: 2.43, 95% confidence interval (CI): 1.16-5.10, P=0.02. Type of association: GN.
|Drugs=phenytoin
|Drug Classes=
|Diseases=Craniofacial Abnormalities
|Curation Level=Curated
|PharmGKB Accession ID=PA165110661
}}

{{PharmGKB
|RSID=rs1051740
|Name_s=EPHX1: Y113H; NM_000120.2: c.337T>C; NT_004559.13: g.2221786T>C
|Gene_s=EPHX1
|Feature=Exon/NonSyn
|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 frequency for Y113H (337T>C) was 0.453 in this study of 96 Japanese epileptic patients.
|Drugs=carbamazepine
|Drug Classes=
|Diseases=Epilepsy
|Curation Level=Curated
|PharmGKB Accession ID=PA163961475
}}

{{PharmGKB
|RSID=rs1051740
|Name_s=EPHX1, exon 3, c.337T>C, mRNA 612T>C, mRNA 378T>C, p.Tyr113His
|Gene_s=EPHX1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19794411
|Annotation=Risk or phenotype-associated allele: C allele Phenotype: The C allele was not associated with warfarin maintenance dose variability (p = 0.5835). 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=PA165111647
}}
{{PMID Auto
|PMID=21190234
|Title=Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk
}}

{{PMID Auto
|PMID=21480392
|Title=Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk
|OA=1
}}

{{PMID Auto
|PMID=22355322
|Title=Gene-Gene and Gene-Environmental Interactions of Childhood Asthma: A Multifactor Dimension Reduction Approach
|OA=1
}}

{{ClinVar
|rsid=1051740
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=225831932
|CHROM=1
|GMAF=0.3159
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050378000a0515051f110101
|GENEINFO=EPHX1:2052
|GENE_NAME=EPHX1
|GENE_ID=2052
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.225831932T>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;TPA;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.6837; 0.3163
|CLNACC=RCV000018075.1; RCV000018076.1; RCV000018077.1; RCV000018078.1
|CLNDBN=Lymphoproliferative disorders, susceptibility to; Preeclampsia, susceptibility to; Emphysema, susceptibility to; Pulmonary disease, chronic obstructive, susceptibility to
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001136018.3:c.337T>C; 132810.0001
|COMMON=1
|Disease=Lymphoproliferative disorders; Preeclampsia; Emphysema; Pulmonary disease
}}

{{PMID Auto
|PMID=17048007
|Title=Association of warfarin dose with genes involved in its action and metabolism.
|OA=1
}}

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

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

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

{{PMID Auto
|PMID=17885617
|Title=Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.
}}

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

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

{{PMID Auto
|PMID=18439551
|Title=Genetic architecture of transcript-level variation in humans.
|OA=1
}}

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

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

{{PMID Auto
|PMID=18978678
|Title=Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
|OA=1
}}

{{PMID Auto
|PMID=18990750
|Title=Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18992148
|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
|OA=1
}}

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

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

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

{{PMID Auto
|PMID=19479063
|Title=Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
|OA=1
}}

{{PMID Auto
|PMID=20233420
|Title=Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.
|OA=1
}}

{{PMID Auto
|PMID=20932192
|Title=Microsomal epoxide hydrolase gene polymorphisms and susceptibility to chronic obstructive pulmonary disease in the Tunisian population.
}}

{{PMID Auto
|PMID=21453055
|Title=Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians.
}}

{{PMID Auto
|PMID=21653646
|Title=Genetically lowered microsomal epoxide hydrolase activity and tobacco-related cancer in 47,000 individuals.
}}

{{PMID Auto
|PMID=22200898
|Title=Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
}}

{{PMID Auto
|PMID=22569204
|Title=PharmGKB summary: phenytoin pathway.
|OA=1
}}

{{PMID Auto
|PMID=22994552
|Title=Maternal Variation in EPHX1, a Xenobiotic Metabolism Gene, Is Associated with Childhood Medulloblastoma: An Exploratory Case-Parent Triad Study
|OA=1
}}

{{GET Evidence
|gene=EPHX1
|aa_change=Tyr113His
|aa_change_short=Y113H
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1051740
|overall_frequency_n=2760
|overall_frequency_d=10758
|overall_frequency=0.256553
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=7
|n_articles_annotated=7
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.997
|genetests_testable=Y
|nblosum100=-1
|autoscore=4
|webscore=N
|n_web_uneval=8
|summary_short=This gene is involved in response to oxidative stress, and the 113H variant is associated with lower enzyme activity, apparently through disruption of protein stability rather than enzymatic function of the protein itself. Several studies have attempted to link this variant to cancer, lung disease, and other associations, but it is unclear which of these are results reproducible and validated.
}}

{{PMID Auto
|PMID=23651475
|Title=Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study
|OA=1
}}

{{PMID Auto
|PMID=23742121
|Title=mEH Tyr113His polymorphism and the risk of ovarian cancer development
|OA=1
}}

{{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=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}}