chr1:225810124:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:225,997,826-226,033,264 
hg38 chr1:225,810,124-225,845,563

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 squamous cell carcinoma NA BeFree,GAD Detail
0.005 Chromosome Aberrations NA GAD Detail
0.002 Congenital chromosomal disease NA BeFree Detail
0.002 Colonic Neoplasms NA GAD Detail
0.002 Colonic Polyps NA GAD Detail
0.002 colorectal carcinoma NA BeFree Detail
0.013 Colorectal Neoplasms NA GAD,LHGDN Detail
0.002 Connective Tissue Diseases NA GAD Detail
<0.001 Coronary heart disease NA BeFree Detail
0.003 Crohn Disease NA BeFree,GAD Detail
0.002 Deafness NA GAD Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.021 DNA Damage NA GAD Detail
0.001 eclampsia NA BeFree Detail
0.010 Pathological accumulation of air in tissues NA GAD,LHGDN Detail
0.002 endometriosis NA GAD Detail
0.006 epilepsy NA BeFree,GAD Detail
0.009 Esophageal Neoplasms Association between esophageal cancer risk and EPHX1 polymorphisms: a meta-analy... BeFree,GAD 24803829 Detail
0.009 Esophageal Neoplasms Lack of association between EPHX1 polymorphism and esophageal cancer risk: evide... BeFree,GAD 25714851 Detail
0.002 Fetal Diseases NA GAD Detail
0.007 Head and Neck Neoplasms NA GAD Detail
0.002 Hearing Loss, Partial NA GAD Detail
0.005 hepatitis NA BeFree,GAD Detail
<0.001 hepatitis A NA BeFree Detail
<0.001 hepatitis B NA BeFree Detail
0.006 hepatitis C NA BeFree,GAD,LHGDN Detail
0.007 Hodgkin Disease NA GAD Detail
0.002 Hypercapnia NA GAD Detail
0.002 pulmonary hypertension NA GAD Detail
0.005 Inflammation NA GAD Detail
0.007 Laryngeal neoplasm NA GAD,LHGDN Detail
<0.001 leukemia NA BeFree Detail
0.002 chronic lymphocytic leukemia NA GAD Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
0.005 Leukemia, Myelocytic, Acute NA BeFree,GAD Detail
<0.001 Liver diseases NA BeFree Detail
<0.001 Alcoholic Liver Diseases NA BeFree Detail
0.005 Liver neoplasms NA GAD Detail
0.170 Chronic Obstructive Airway Disease NAC treatment in COPD patients with extremely slow/slow EPHX1 enzyme activity im... BeFree,CTD_human,GAD,LHGDN 25999707 Detail
0.138 Lung Neoplasms NA CTD_human,GAD,LHGDN Detail
0.125 lymphoma NA BeFree,CTD_human,GAD Detail
0.129 Lymphoma, Non-Hodgkin NA CTD_human,GAD Detail
0.003 Malignant neoplasm of stomach NA BeFree,GAD Detail
0.120 Animal Mammary Neoplasms NA CTD_human Detail
0.120 Mammary Neoplasms, Experimental NA CTD_human Detail
0.002 Mesothelioma NA GAD Detail
0.007 Mouth Neoplasms NA GAD Detail
0.126 multiple myeloma NA BeFree,CTD_human,GAD Detail
0.002 Musculoskeletal Diseases NA GAD Detail
0.003 myocardial infarction NA BeFree,GAD Detail
0.002 Occupational Diseases NA GAD Detail
0.002 Oropharyngeal Neoplasms NA GAD Detail
0.001 ovarian carcinoma NA BeFree Detail
0.005 Parkinson disease NA GAD Detail
0.120 Peripheral neuropathy NA CTD_human Detail
0.005 Pharyngeal Neoplasms NA GAD Detail
0.002 Pleural Neoplasms NA GAD Detail
0.002 pneumonia NA GAD Detail
0.005 polycystic ovary syndrome NA BeFree,GAD Detail
0.135 pre-eclampsia NA CTD_human,GAD,LHGDN Detail
0.002 Pregnancy Complications, Hematologic NA GAD Detail
0.120 Prostatic Neoplasms NA CTD_human Detail
0.122 pulmonary emphysema NA BeFree,CTD_human Detail
0.003 Respiratory Tract Diseases NA BeFree,GAD Detail
0.002 Dermatologic disorders NA GAD Detail
0.002 Stomach Neoplasms NA GAD Detail
0.002 thrombosis NA GAD Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Wheezing NA BeFree Detail
<0.001 diffuse large B-cell lymphoma NA BeFree Detail
0.002 Alcohol abuse NA GAD Detail
<0.001 Squamous cell carcinoma of lung NA BeFree Detail
0.009 Premature Birth NA GAD Detail
0.004 esophageal carcinoma Association between esophageal cancer risk and EPHX1 polymorphisms: a meta-analy... BeFree,GAD 24803829 Detail
0.004 esophageal carcinoma Lack of association between EPHX1 polymorphism and esophageal cancer risk: evide... BeFree,GAD 25714851 Detail
0.002 Malignant neoplasm of brain NA GAD Detail
0.066 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.009 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
<0.001 childhood brain tumor NA BeFree Detail
0.002 alpha 1-antitrypsin deficiency NA GAD Detail
0.120 Amphetamine-Related Disorders NA CTD_human Detail
<0.001 Bulla of lung NA BeFree Detail
0.066 Malignant neoplasm of lung Impact of epoxide hydrolase 1 polymorphisms on lung cancer susceptibility in Asi... BeFree,GAD 25312477 Detail
0.005 age related macular degeneration NA BeFree,GAD Detail
<0.001 Childhood asthma NA BeFree Detail
<0.001 Acquired aplastic anemia NA BeFree Detail
0.008 Cancer of Head and Neck Systematic Review and Meta-Analysis of the Relationship between EPHX1 Polymorphi... BeFree,GAD 25923690 Detail
0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
0.002 cervix carcinoma NA GAD Detail
0.002 Malignant neoplasm of liver NA GAD Detail
0.003 malignant mesothelioma NA BeFree,GAD Detail
0.008 Malignant neoplasm of prostate NA BeFree,GAD Detail
<0.001 Craniofacial Abnormalities NA BeFree Detail
0.002 neuropathy NA GAD Detail
0.002 Hepatitis B, Chronic NA GAD Detail
0.002 Hepatitis C, Chronic NA GAD Detail
0.016 Malignant neoplasm of esophagus Association between esophageal cancer risk and EPHX1 polymorphisms: a meta-analy... BeFree,GAD 24803829 Detail
0.016 Malignant neoplasm of esophagus Lack of association between EPHX1 polymorphism and esophageal cancer risk: evide... BeFree,GAD 25714851 Detail
<0.001 Carcinoma of larynx NA BeFree Detail
0.002 Carcinogenesis NA BeFree Detail
0.001 prostate carcinoma NA BeFree Detail
0.003 Epithelial ovarian cancer NA BeFree,GAD Detail
<0.001 breast carcinoma NA BeFree Detail
0.009 Carcinoma of lung Impact of epoxide hydrolase 1 polymorphisms on lung cancer susceptibility in Asi... BeFree 25312477 Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.002 Perinatal death NA GAD Detail
<0.001 Severe chronic obstructive pulmonary disease NA BeFree Detail
0.002 Pregnancy associated hypertension NA GAD Detail
<0.001 Carcinogenicity NA BeFree Detail
0.003 Optic Atrophy, Hereditary, Leber NA LHGDN Detail
0.003 ovarian neoplasm NA BeFree,LHGDN Detail
0.002 Genomic Instability NA GAD Detail
0.002 Microsatellite Instability NA GAD Detail
<0.001 Polyp of large intestine NA BeFree Detail
0.004 Malignant neoplasm of ovary NA BeFree,GAD Detail
0.002 Mesothelioma (malignant, clinical disorder) (disorder) NA GAD Detail
0.001 Adenoma of large intestine NA BeFree Detail
<0.001 Hypopharyngeal Carcinoma NA BeFree Detail
0.002 hearing impairment NA GAD Detail
0.120 Micronuclei, Chromosome-Defective NA CTD_human Detail
0.002 Mammary Neoplasms NA GAD Detail
0.033 colorectal cancer NA BeFree,GAD Detail
0.002 Cirrhosis NA GAD Detail
0.240 Hypercholanemia, familial NA CLINVAR,ORPHANET Detail
0.125 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,CTD_human,GAD Detail
0.136 liver carcinoma NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Oropharyngeal Carcinoma NA BeFree Detail
0.005 WARFARIN SENSITIVITY (disorder) NA GAD Detail
0.002 Infection NA GAD Detail
0.002 Hearing Loss NA GAD Detail
<0.001 Congenital Abnormality NA BeFree Detail
0.002 Abruptio Placentae NA GAD Detail
0.013 adenoma NA BeFree,GAD,LHGDN Detail
<0.001 anemia NA BeFree Detail
0.002 Anoxia NA GAD Detail
0.006 asthma NA BeFree,GAD Detail
0.008 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.003 Bladder Neoplasm NA LHGDN Detail
0.003 Bone Diseases NA BeFree,GAD Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.010 Malignant neoplasm of breast NA BeFree,GAD Detail
0.003 bronchitis NA BeFree,GAD Detail
<0.001 Malignant tumor of colon NA BeFree Detail
0.003 Malignant neoplasm of larynx NA BeFree,GAD Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

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Association between esophageal cancer risk and EPHX1 polymorphisms: a meta-analysis. DisGeNET Detail
Lack of association between EPHX1 polymorphism and esophageal cancer risk: evidence from meta-analys... DisGeNET Detail
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NAC treatment in COPD patients with extremely slow/slow EPHX1 enzyme activity improves FEV1 and the ... DisGeNET Detail
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Association between esophageal cancer risk and EPHX1 polymorphisms: a meta-analysis. DisGeNET Detail
Lack of association between EPHX1 polymorphism and esophageal cancer risk: evidence from meta-analys... DisGeNET Detail
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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
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Impact of epoxide hydrolase 1 polymorphisms on lung cancer susceptibility in Asian populations. DisGeNET Detail
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Systematic Review and Meta-Analysis of the Relationship between EPHX1 Polymorphisms and the Risk of ... DisGeNET Detail
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Association between esophageal cancer risk and EPHX1 polymorphisms: a meta-analysis. DisGeNET Detail
Lack of association between EPHX1 polymorphism and esophageal cancer risk: evidence from meta-analys... DisGeNET Detail
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Impact of epoxide hydrolase 1 polymorphisms on lung cancer susceptibility in Asian populations. DisGeNET Detail
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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
rs386596107 dbSNP
Genome
hg38
Position
chr1:225,810,124-225,845,563
Variant Type
snv
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