chr1:225831932:T>C Detail (hg38) (EPHX1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:226,019,633-226,019,633 View the variant detail on this assembly version. |
| hg38 | chr1:225,831,932-225,831,932 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001136018.3:c.337T>C | NP_001129490.1:p.Tyr113His |
| NM_000120.3:c.337T>C | NP_000111.1:p.Tyr113His | |
| NM_001291163.1:c.337T>C | NP_001278092.1:p.Tyr113His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.424 |
| ToMMo:0.427 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.456 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2001-06-01 | no assertion criteria provided | EPOXIDE HYDROLASE 1 POLYMORPHISM |
germline
|
Detail |
risk factor
|
2019-04-01 | no assertion criteria provided | cystic fibrosis |
germline
|
Detail |
|
Benign
|
2018-11-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Carcinoma of lung | However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and... | BeFree | 18298806 | Detail |
| 0.026 | Malignant neoplasm of lung | However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and... | BeFree | 18298806 | Detail |
| 0.066 | Malignant neoplasm of lung | However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and... | BeFree | 18298806 | Detail |
| 0.009 | Carcinoma of lung | However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and... | BeFree | 18298806 | Detail |
| 0.013 | Malignant neoplasm of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.003 | Malignant neoplasm of stomach | We found an increased risk of gastric cancer for homozygotes for C (histidine) v... | BeFree | 17164366 | Detail |
| <0.001 | Craniofacial Abnormalities | The goal of this study was to assess the effect of maternal genotype of function... | BeFree | 19952982 | Detail |
| 0.005 | age related macular degeneration | This study suggests that a coding SNP in EPHX1 (Y113H) may be important in AMD a... | BeFree | 15774926 | Detail |
| <0.001 | breast carcinoma | We undertook a case-control study in an Australian Caucasian population-based sa... | BeFree | 17416769 | Detail |
| 0.102 | Malignant neoplasm of breast | We undertook a case-control study in an Australian Caucasian population-based sa... | BeFree | 17416769 | Detail |
| 0.001 | Squamous cell carcinoma of esophagus | MEH Tyr113His polymorphism may not be used as a stratification marker in screeni... | BeFree | 14669306 | Detail |
| 0.136 | liver carcinoma | Polymorphic forms of the human EPHX gene have been described that vary in enzyma... | BeFree | 8944076 | Detail |
| <0.001 | ovarian carcinoma | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and S... | BeFree | 21480392 | Detail |
| 0.002 | Wheezing | We investigated the associations of EPHX1 Tyr113His and His139Arg polymorphisms ... | BeFree | 21183608 | Detail |
| 0.007 | Cancer of Head and Neck | In addition, increased risk for HNC was associated consistently with the ALDH2*1... | BeFree | 18425322 | Detail |
| 0.004 | Malignant neoplasm of ovary | The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk o... | BeFree | 11255266 | 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 |
| <0.001 | Malignant neoplasm of ovary | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and S... | BeFree | 21480392 | Detail |
| 0.022 | breast carcinoma | We undertook a case-control study in an Australian Caucasian population-based sa... | BeFree | 17416769 | Detail |
| 0.002 | Carcinoma of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.002 | colorectal carcinoma | We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and... | BeFree | 22415791 | Detail |
| 0.010 | Malignant neoplasm of breast | We undertook a case-control study in an Australian Caucasian population-based sa... | BeFree | 17416769 | Detail |
| 0.003 | Malignant neoplasm of ovary | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and S... | BeFree | 21480392 | 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 | stomach carcinoma | We found an increased risk of gastric cancer for homozygotes for C (histidine) v... | BeFree | 17164366 | Detail |
| 0.033 | Cancer of Head and Neck | In addition, increased risk for HNC was associated consistently with the ALDH2*1... | BeFree | 18425322 | Detail |
| 0.008 | Cancer of Head and Neck | In addition, increased risk for HNC was associated consistently with the ALDH2*1... | BeFree | 18425322 | Detail |
| 0.001 | Adenoma of large intestine | We determined the association between charred meat consumption, cigarette smokin... | BeFree | 21598178 | Detail |
| 0.001 | ovarian carcinoma | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and S... | BeFree | 21480392 | Detail |
| 0.001 | eclampsia | Neither maternal nor fetal EPHX Tyr113His and GSTP1 Ile105Val polymorphisms appe... | BeFree | 16147638 | Detail |
| 0.001 | ovarian carcinoma | The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk o... | BeFree | 11255266 | Detail |
| 0.004 | esophageal carcinoma | EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-an... | BeFree | 24615030 | Detail |
| <0.001 | Bulla of lung | The EPHX1 Tyr113His polymorphism was associated with emphysematous changes (P=0.... | BeFree | 22027651 | Detail |
| 0.004 | Malignant neoplasm of ovary | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and S... | BeFree | 21480392 | Detail |
| 0.009 | Carcinoma of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.066 | Malignant neoplasm of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.001 | ovarian carcinoma | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and S... | BeFree | 21480392 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His) AND EPOXIDE HYDROLASE 1 POLYMORPHISM | ClinVar | Detail |
| NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His) AND Cystic fibrosis | ClinVar | Detail |
| NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His) AND not provided | ClinVar | Detail |
| However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and the C-Allele of EPH... | DisGeNET | Detail |
| However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and the C-Allele of EPH... | DisGeNET | Detail |
| However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and the C-Allele of EPH... | DisGeNET | Detail |
| However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and the C-Allele of EPH... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| We found an increased risk of gastric cancer for homozygotes for C (histidine) variant in Y113H of E... | DisGeNET | Detail |
| The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in ... | DisGeNET | Detail |
| This study suggests that a coding SNP in EPHX1 (Y113H) may be important in AMD and supports a previo... | DisGeNET | Detail |
| We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases ... | DisGeNET | Detail |
| We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases ... | DisGeNET | Detail |
| MEH Tyr113His polymorphism may not be used as a stratification marker in screening individuals at a ... | DisGeNET | Detail |
| Polymorphic forms of the human EPHX gene have been described that vary in enzymatic activity, and on... | DisGeNET | Detail |
| Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex techno... | DisGeNET | Detail |
| We investigated the associations of EPHX1 Tyr113His and His139Arg polymorphisms with asthma and whee... | DisGeNET | Detail |
| In addition, increased risk for HNC was associated consistently with the ALDH2*1/*2, p53 codon 72 Pr... | DisGeNET | Detail |
| The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer. | 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 |
| Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex techno... | DisGeNET | Detail |
| We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases ... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms... | DisGeNET | Detail |
| We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases ... | DisGeNET | Detail |
| Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex techno... | 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 found an increased risk of gastric cancer for homozygotes for C (histidine) variant in Y113H of E... | DisGeNET | Detail |
| In addition, increased risk for HNC was associated consistently with the ALDH2*1/*2, p53 codon 72 Pr... | DisGeNET | Detail |
| In addition, increased risk for HNC was associated consistently with the ALDH2*1/*2, p53 codon 72 Pr... | DisGeNET | Detail |
| We determined the association between charred meat consumption, cigarette smoking, microsomal epoxid... | DisGeNET | Detail |
| Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex techno... | DisGeNET | Detail |
| Neither maternal nor fetal EPHX Tyr113His and GSTP1 Ile105Val polymorphisms appear to contribute sig... | DisGeNET | Detail |
| The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer. | DisGeNET | Detail |
| EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-analysis. | DisGeNET | Detail |
| The EPHX1 Tyr113His polymorphism was associated with emphysematous changes (P=0.007), including para... | DisGeNET | Detail |
| Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex techno... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex techno... | 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
- rs1051740 dbSNP
- Genome
- hg38
- Position
- chr1:225,831,932-225,831,932
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 96.23
- Standard deviation of sample read depth (HGVD)
- 46.08
- Number of reference allele (HGVD)
- 1393
- Number of alternative allele (HGVD)
- 1027
- Allele Frequency (HGVD)
- 0.4243801652892562
- 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))
- rs1051740
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4273
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7161
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 3941
- East Asian Heterozygous Counts (ExAC)
- 2137
- East Asian Homozygous Counts (ExAC)
- 902
- East Asian Allele Frequency (ExAC)
- 0.4559231837112448
- Chromosome Counts in All Race (ExAC)
- 121362
- Allele Counts in All Race (ExAC)
- 38033
- Heterozygous Counts in All Race (ExAC)
- 25319
- Homozygous Counts in All Race (ExAC)
- 6357
- Allele Frequency in All Race (ExAC)
- 0.31338474975692554
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