rs1051740
| Orientation | plus |
| Stabilized | plus |
| Make rs1051740(C;C) |
| Make rs1051740(C;T) |
| Make rs1051740(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 225831932 |
| Gene | EPHX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1051740 |
| dbSNP (classic) | rs1051740 |
| ClinGen | rs1051740 |
| ebi | rs1051740 |
| HLI | rs1051740 |
| Exac | rs1051740 |
| Gnomad | rs1051740 |
| Varsome | rs1051740 |
| LitVar | rs1051740 |
| Map | rs1051740 |
| PheGenI | rs1051740 |
| Biobank | rs1051740 |
| 1000 genomes | rs1051740 |
| hgdp | rs1051740 |
| ensembl | rs1051740 |
| geneview | rs1051740 |
| scholar | rs1051740 |
| rs1051740 | |
| pharmgkb | rs1051740 |
| gwascentral | rs1051740 |
| openSNP | rs1051740 |
| 23andMe | rs1051740 |
| SNPshot | rs1051740 |
| SNPdbe | rs1051740 |
| MSV3d | rs1051740 |
| GWAS Ctlg | rs1051740 |
| GMAF | 0.3163 |
| Max Magnitude | 0 |
rs1051740, also known as Tyr113His, is a SNP in the microsomal epoxide hydrolase EPHX1 gene.
| ? | (C;C) (C;T) (T;T) | 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)
[PMID 21190234] Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk
[PMID 21480392
] Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk
[PMID 22355322] Gene-Gene and Gene-Environmental Interactions of Childhood Asthma: A Multifactor Dimension Reduction Approach
| ClinVar | |
|---|---|
| Risk | rs1051740(C;C) |
| Alt | rs1051740(C;C) |
| Reference | rs1051740(T;T) |
| Significance | Other |
| Disease | Lymphoproliferative disorders Preeclampsia Emphysema Pulmonary disease carbamazepine response - Dosage |
| Variation | info |
| Gene | EPHX1 |
| CLNDBN | Lymphoproliferative disorders, susceptibility to Preeclampsia, susceptibility to Emphysema, susceptibility to Pulmonary disease, chronic obstructive, susceptibility to carbamazepine response - Dosage |
| Reversed | 0 |
| HGVS | NC_000001.10:g.226019633T>C |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein) |
| CLNACC | RCV000018075.3, RCV000018076.3, RCV000018077.3, RCV000018078.3, RCV000211229.1, |
[PMID 17048007] Association of warfarin dose with genes involved in its action and metabolism.
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
[PMID 17160896] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
[PMID 17548691] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.
[PMID 17885617] Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18298806] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18439551] Genetic architecture of transcript-level variation in humans.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18632753] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
[PMID 18978678] Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
[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 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
[PMID 19017876] Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.
[PMID 19131562] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.
[PMID 19479063] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
[PMID 20233420] 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] PharmGKB summary: phenytoin pathway.
[PMID 22994552] Maternal Variation in EPHX1, a Xenobiotic Metabolism Gene, Is Associated with Childhood Medulloblastoma: An Exploratory Case-Parent Triad Study
[PMID 23651475] Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study
[PMID 23742121] mEH Tyr113His polymorphism and the risk of ovarian cancer development
[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
[PMID 23175176] 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 32952508] Association of Four Missense SNPs with Preeclampsia in Saudi Women.
