chr1:225838705:A>T Detail (hg38) (EPHX1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:226,026,406-226,026,406 View the variant detail on this assembly version. |
| hg38 | chr1:225,838,705-225,838,705 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001136018.3:c.416A>T | NP_001129490.1:p.His139Leu |
| NM_000120.3:c.416A>T | NP_000111.1:p.His139Leu | |
| NM_001291163.1:c.416A>T | NP_001278092.1:p.His139Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
| Descrption | Source | Links |
|---|---|---|
| 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
- -
- Genome
- hg38
- Position
- chr1:225,838,705-225,838,705
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121306
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4730845959804132E-5
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