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rs1051740

From SNPedia

Orientationplus
Stabilizedplus
Make rs1051740(C;C)
Make rs1051740(C;T)
Make rs1051740(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position225831932
GeneEPHX1
is asnp
is mentioned by
dbSNPrs1051740
ebirs1051740
HLIrs1051740
Exacrs1051740
Varsomers1051740
Maprs1051740
PheGenIrs1051740
hapmaprs1051740
1000 genomesrs1051740
hgdprs1051740
ensemblrs1051740
gopubmedrs1051740
geneviewrs1051740
scholarrs1051740
googlers1051740
pharmgkbrs1051740
gwascentralrs1051740
openSNPrs1051740
23andMers1051740
23andMe allrs1051740
SNP Nexus

SNPshotrs1051740
SNPdbers1051740
MSV3drs1051740
GWAS Ctlgrs1051740
GMAF0.3163
Max Magnitude
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)

OMIM132810
DescLYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO
Variant0001
Relatedalso


Venter snp
Source plos
Gene EPHX1
allele C
frequency 0.325
sift AFFECT FUNCTION
HuRef 1103675352608
Disease Association 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.






[PMID 21190234] Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk


[PMID 21480392OA-icon.png] Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk


[PMID 22355322OA-icon.png] 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 PharmGKB
CLNACC RCV000018075.3, RCV000018076.3, RCV000018077.3, RCV000018078.3, RCV000211229.1,



[PMID 17048007OA-icon.png] Association of warfarin dose with genes involved in its action and metabolism.


[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.


[PMID 17160896OA-icon.png] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.


[PMID 17548691OA-icon.png] 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 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.


[PMID 18439551OA-icon.png] Genetic architecture of transcript-level variation in humans.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.


[PMID 18978678OA-icon.png] Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.


[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.


[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.


[PMID 18992263OA-icon.png] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.


[PMID 19017876OA-icon.png] Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.


[PMID 19131562OA-icon.png] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.


[PMID 19479063OA-icon.png] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.


[PMID 20233420OA-icon.png] 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 22569204OA-icon.png] PharmGKB summary: phenytoin pathway.


[PMID 22994552OA-icon.png] Maternal Variation in EPHX1, a Xenobiotic Metabolism Gene, Is Associated with Childhood Medulloblastoma: An Exploratory Case-Parent Triad Study


GET Evidence
EPHX1-Y113H
aa_change Tyr113His
aa_change_short Y113H
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.256553
summary 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 23651475OA-icon.png] Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study


[PMID 23742121OA-icon.png] 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 23175176OA-icon.png] 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.