rs2234922
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2234922(A;G) |
| Make rs2234922(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 225838705 |
| Gene | EPHX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2234922 |
| dbSNP (classic) | rs2234922 |
| ClinGen | rs2234922 |
| ebi | rs2234922 |
| HLI | rs2234922 |
| Exac | rs2234922 |
| Gnomad | rs2234922 |
| Varsome | rs2234922 |
| LitVar | rs2234922 |
| Map | rs2234922 |
| PheGenI | rs2234922 |
| Biobank | rs2234922 |
| 1000 genomes | rs2234922 |
| hgdp | rs2234922 |
| ensembl | rs2234922 |
| geneview | rs2234922 |
| scholar | rs2234922 |
| rs2234922 | |
| pharmgkb | rs2234922 |
| gwascentral | rs2234922 |
| openSNP | rs2234922 |
| 23andMe | rs2234922 |
| SNPshot | rs2234922 |
| SNPdbe | rs2234922 |
| MSV3d | rs2234922 |
| GWAS Ctlg | rs2234922 |
| GMAF | 0.1846 |
| Max Magnitude | 0 |
rs2234922, also known as His139Arg, is a SNP in the microsomal epoxide hydrolase EPHX1 gene.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21228414
] Genetic variation in metabolic genes, occupational solvent exposure, and risk of non-hodgkin lymphoma
| ClinVar | |
|---|---|
| Risk | rs2234922(G;G) rs2234922(T;T) |
| Alt | rs2234922(G;G) rs2234922(T;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 UniProtKB (protein) |
| CLNACC | RCV000018079.3, RCV000211258.1, |
[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 17686149] 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] 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 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 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 20091863] Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer.
[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 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 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 26653643] [Gene variance in microsomal epoxide hydrolase and the susceptibility of coal workers' pneumoconiosis].
[PMID 32952508] Association of Four Missense SNPs with Preeclampsia in Saudi Women.
