chr1:226026406:A>G Detail (hg19) (EPHX1)

Information

Genome

Assembly Position
hg19 chr1:226,026,406-226,026,406
hg38 chr1:225,838,705-225,838,705 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001136018.3:c.416A>G NP_001129490.1:p.His139Arg
NM_000120.3:c.416A>G NP_000111.1:p.His139Arg
NM_001291163.1:c.416A>G NP_001278092.1:p.His139Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.150
ToMMo:0.170
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.128

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 132810 OMIM
HGNC 3401 HGNC
Ensembl ENSG00000143819 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5001621 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2002-09-01 no assertion criteria provided EPOXIDE HYDROLASE 1 POLYMORPHISM germline Detail
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Malignant neoplasm of prostate To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.081 Malignant neoplasm of prostate To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.010 prostate carcinoma To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.006 prostate carcinoma To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.026 prostate carcinoma To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.075 Malignant neoplasm of prostate To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.087 Malignant neoplasm of prostate To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.001 prostate carcinoma To investigate this, we studied the association between prostate cancer and smok... BeFree 16614120 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
<0.001 diffuse large B-cell lymphoma The weak, nonsignificant overall association between benzene and diffuse large B... BeFree 21228414 Detail
0.066 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.170 Chronic Obstructive Airway Disease In a case-control analysis of COPD susceptibility limited to cases with densitom... BeFree 17363767 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
<0.001 childhood brain tumor We found positive interaction odds ratios (ORs) for both maternal and paternal s... BeFree 24260161 Detail
<0.001 Brain Neoplasms We found positive interaction odds ratios (ORs) for both maternal and paternal s... BeFree 24260161 Detail
0.009 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.003 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.012 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.012 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.092 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.022 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
<0.001 Craniofacial Abnormalities The goal of this study was to assess the effect of maternal genotype of function... BeFree 19952982 Detail
0.002 Wheezing We investigated the associations of EPHX1 Tyr113His and His139Arg polymorphisms ... BeFree 21183608 Detail
0.033 colorectal cancer We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and... BeFree 22415791 Detail
<0.001 stomach carcinoma Association of microsomal epoxide hydrolase exon 3 Tyr113His and exon 4 His139Ar... BeFree 23580125 Detail
0.002 colorectal carcinoma We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and... BeFree 22415791 Detail
0.003 Malignant neoplasm of stomach Association of microsomal epoxide hydrolase exon 3 Tyr113His and exon 4 His139Ar... BeFree 23580125 Detail
0.009 Esophageal Neoplasms EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-an... BeFree 24615030 Detail
0.016 Malignant neoplasm of esophagus EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-an... BeFree 24615030 Detail
0.001 Adenoma of large intestine We determined the association between charred meat consumption, cigarette smokin... BeFree 21598178 Detail
0.004 esophageal carcinoma EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-an... BeFree 24615030 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001136018.4(EPHX1):c.416A>G (p.His139Arg) AND EPOXIDE HYDROLASE 1 POLYMORPHISM ClinVar Detail
NM_001136018.4(EPHX1):c.416A>G (p.His139Arg) AND not provided ClinVar Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
To investigate this, we studied the association between prostate cancer and smoking, as well as the ... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
The weak, nonsignificant overall association between benzene and diffuse large B-cell lymphoma (OR =... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
In a case-control analysis of COPD susceptibility limited to cases with densitometric upper-lobe-pre... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
We found positive interaction odds ratios (ORs) for both maternal and paternal smoking during pregna... DisGeNET Detail
We found positive interaction odds ratios (ORs) for both maternal and paternal smoking during pregna... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in ... DisGeNET Detail
We investigated the associations of EPHX1 Tyr113His and His139Arg polymorphisms with asthma and whee... DisGeNET Detail
We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms... DisGeNET Detail
Association of microsomal epoxide hydrolase exon 3 Tyr113His and exon 4 His139Arg polymorphisms with... DisGeNET Detail
We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms... DisGeNET Detail
Association of microsomal epoxide hydrolase exon 3 Tyr113His and exon 4 His139Arg polymorphisms with... DisGeNET Detail
EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-analysis. DisGeNET Detail
EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-analysis. DisGeNET Detail
We determined the association between charred meat consumption, cigarette smoking, microsomal epoxid... DisGeNET Detail
EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-analysis. DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2234922 dbSNP
Genome
hg19
Position
chr1:226,026,406-226,026,406
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
181.03
Standard deviation of sample read depth (HGVD)
80.72
Number of reference allele (HGVD)
2057
Number of alternative allele (HGVD)
363
Allele Frequency (HGVD)
0.15
Gene Symbol (HGVD)
EPHX1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2234922
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.17
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2849
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
1109
East Asian Heterozygous Counts (ExAC)
971
East Asian Homozygous Counts (ExAC)
69
East Asian Allele Frequency (ExAC)
0.1283564814814815
Chromosome Counts in All Race (ExAC)
121306
Allele Counts in All Race (ExAC)
23810
Heterozygous Counts in All Race (ExAC)
18489
Homozygous Counts in All Race (ExAC)
2660
Allele Frequency in All Race (ExAC)
0.19628048076764545
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