rs2234922
A SNP in the EPHX1 gene on chromosome 1. Its most notable genotype is A;A: common in clinvar
- Gene
- EPHX1
- Location
- Chr 1225,838,705 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 18%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 64%
- European ancestry (Utah)A;A 64%
- Han Chinese (Beijing)A;A 80%
- Japanese (Tokyo)A;A 77%
- Yoruba (Nigeria)A;A 37%
- African ancestry (Southwest US)A;A 54%
- Chinese (Denver)A;A 82%
- Gujarati IndianA;A 67%
- Luhya (Kenya)A;A 45%
- Mexican ancestry (Los Angeles)A;A 74%
- Maasai (Kenya)A;A 55%
- TuscanA;A 72%
Related
Notes
From SNPedia
Show notes, about 360 words
rs2234922, also known as His139Arg, is a SNP in the microsomal epoxide hydrolase EPHX1 gene. The genetics of chronic obstructive pulmonary disease. Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race. Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery. Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations. Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes. Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Genetic associations with hypoxemia and pulmonary arterial pressure in COPD. Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes. Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression. Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer. Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation. Microsomal epoxide hydrolase gene polymorphisms and susceptibility to chronic obstructive pulmonary disease in the Tunisian population. Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians. Genetically lowered microsomal epoxide hydrolase activity and tobacco-related cancer in 47,000 individuals. Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE). PharmGKB summary: phenytoin pathway.
Source and license
Adapted from rs2234922 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.