chr7:99354583:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr7:99,354,583-99,381,871
hg38 chr7:99,756,960-99,784,248 

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
0.002 squamous cell carcinoma NA GAD Detail
0.002 Neoplastic Cell Transformation NA GAD Detail
<0.001 cerebral infarction NA BeFree Detail
<0.001 Primary biliary cirrhosis NA BeFree Detail
<0.001 cholestasis NA BeFree Detail
0.003 ulcerative colitis NA BeFree,GAD Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.005 Colorectal Neoplasms NA GAD Detail
0.001 Coronary Arteriosclerosis NA BeFree Detail
0.001 Coronary heart disease NA BeFree Detail
<0.001 Crohn Disease NA BeFree Detail
<0.001 cystic fibrosis NA BeFree Detail
<0.001 Delirium NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
0.006 diabetes mellitus NA BeFree,GAD Detail
0.093 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, we have described for the first time a significant correlation of... BeFree,CTD_rat,GAD,LHGDN 24996290 Detail
0.003 diarrhea NA BeFree,GAD Detail
0.002 drug allergy NA GAD Detail
0.003 Endometrial Neoplasms NA LHGDN Detail
0.003 epilepsy NA BeFree,GAD Detail
0.005 Esophageal Neoplasms NA GAD Detail
0.002 Exanthema NA GAD Detail
<0.001 Fatty Liver NA BeFree Detail
0.002 Femur Head Necrosis NA GAD Detail
<0.001 gastroesophageal reflux disease NA BeFree Detail
0.007 Head and Neck Neoplasms NA GAD Detail
<0.001 hepatitis B NA BeFree Detail
0.121 hepatitis C NA BeFree,CTD_human Detail
0.002 heroin dependence NA GAD Detail
0.029 HIV Infections CYP3A4*22 (c.522-191 C>T; rs35599367) is associated with lopinavir pharmacokinet... BeFree,GAD 24950369 Detail
0.029 HIV Infections CYP3A4 polymorphism and lopinavir toxicity in an HIV-infected pregnant woman. BeFree,GAD 25391550 Detail
0.029 HIV Infections We evaluated EFV400 and EFV600 pharmacokinetics (NONMEM v. 7.2), assessing patie... BeFree,GAD 26044067 Detail
0.008 Hypercholesterolemia NA BeFree,GAD Detail
0.005 Hyperlipidemia Polymorphism of CYP3A4 2 and eNOS genes in the diabetic patients with hyperlipid... BeFree,GAD 24996290 Detail
0.001 hyperlipoproteinemia type III NA BeFree Detail
0.008 Hypertensive disease NA BeFree,GAD Detail
0.002 Hypopharyngeal Neoplasms NA GAD Detail
0.080 Inflammation NA CTD_rat Detail
<0.001 Inflammatory Bowel Diseases In the present study, the effects of artemisinin on pregnane X receptor (PXR)-me... BeFree 24886881 Detail
0.002 Kidney Diseases NA GAD Detail
0.003 Kidney Failure, Acute NA BeFree,GAD Detail
0.081 Kidney Failure, Chronic NA BeFree,RGD Detail
0.002 Kidney Neoplasm NA GAD Detail
0.007 Laryngeal neoplasm NA GAD Detail
0.010 leukemia NA BeFree,GAD Detail
0.002 lymphoid leukemia NA GAD Detail
0.002 Acute lymphocytic leukemia We genotyped eight common single-nucleotide polymorphisms (SNPs) in the CYP3A4 a... BeFree 25266680 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 In interaction with gender a common CYP3A4 polymorphism may influence the surviv... BeFree 25266680 Detail
0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
0.003 leukopenia NA BeFree,GAD Detail
0.004 liver cirrhosis NA BeFree,LHGDN Detail
0.010 Liver diseases NA BeFree,GAD,LHGDN Detail
0.002 Liver neoplasms Establishment of cytochrome P450 3A4 and glutathione S-transferase A1-transfecte... BeFree 24782212 Detail
0.005 Lung Neoplasms NA BeFree,GAD,LHGDN Detail
0.002 lupus nephritis NA GAD Detail
<0.001 lymphoma NA BeFree Detail
0.002 malaria NA GAD Detail
<0.001 Primary malignant neoplasm of liver NA BeFree Detail
0.002 Animal Mammary Neoplasms NA GAD Detail
<0.001 Mesothelioma NA BeFree Detail
<0.001 Metabolic Diseases When compared with the wild-type genotype, the variant genotypes rs5767743 and r... BeFree 26334901 Detail
0.005 Mouth Neoplasms NA GAD Detail
0.004 myopathy Aim of this review is: (i) to describe the molecular mechanisms associated to st... BeFree,GAD 24835295 Detail
0.003 myocardial infarction No association between CYP3A4*22 and statin effectiveness in reducing the risk f... BeFree,GAD 25303298 Detail
0.003 Neoplasm Metastasis NA BeFree,GAD Detail
0.005 Neoplasms, Germ Cell and Embryonal NA GAD Detail
<0.001 nephrotic syndrome NA BeFree Detail
<0.001 neuroblastoma Association of CYP3A4/5 genotypes and expression with the survival of patients w... BeFree 25370902 Detail
0.007 neutropenia NA BeFree,GAD Detail
<0.001 obesity In the small intestine and colon, no changes of CYP enzymes were detected except... BeFree 25998026 Detail
0.002 Bone necrosis NA GAD Detail
0.006 osteoporosis NA BeFree,GAD,LHGDN Detail
0.123 osteosarcoma NA CTD_human,LHGDN Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 Pain, Postoperative NA BeFree Detail
<0.001 Peripheral neuropathy NA BeFree Detail
0.005 Pharyngeal Neoplasms NA GAD Detail
0.123 Prostatic Neoplasms NA BeFree,CTD_human,LHGDN Detail
0.006 schizophrenia Both aripiprazole and haloperidol have been used in the treatment of schizophren... BeFree,GAD 24739668 Detail
0.002 Skin Neoplasms NA GAD Detail
<0.001 Cerebrovascular accident NA BeFree Detail
<0.001 Subarachnoid Hemorrhage NA BeFree Detail
0.002 Testicular Neoplasms NA GAD Detail
0.003 thalassemia NA LHGDN Detail
<0.001 Thromboembolism Phenprocoumon is an anticoagulant used for thromboembolic disorder prophylaxis m... BeFree 25461249 Detail
0.120 Torsades de pointes NA CTD_human Detail
<0.001 tuberculosis NA BeFree Detail
0.002 Genitourinary Neoplasms NA GAD Detail
<0.001 Viremia NA BeFree Detail
0.002 Lymphoma, T-Cell, Cutaneous NA GAD Detail
0.003 peripheral T-cell lymphoma NA BeFree,GAD Detail
0.002 Ovarian Failure, Premature NA GAD Detail
<0.001 Alcohol abuse NA BeFree Detail
<0.001 Depressive Symptoms NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
0.002 Migraine Disorders NA GAD Detail
<0.001 Myocardial Ischemia NA BeFree Detail
<0.001 Hepatic necrosis NA BeFree Detail
0.003 lingual-facial-buccal dyskinesia NA BeFree,GAD Detail
0.002 Malignant neoplasm of mouth NA GAD Detail
0.007 Malignant neoplasm of testis NA GAD Detail
0.003 Liver Failure, Acute NA BeFree,GAD Detail
<0.001 hepatoblastoma NA BeFree Detail
0.002 Squamous Cell Neoplasms NA GAD Detail
<0.001 gliosarcoma NA BeFree Detail
<0.001 Chronic schizophrenia NA BeFree Detail
<0.001 Xanthomatosis, Cerebrotendinous NA BeFree Detail
0.003 Gastrointestinal Stromal Tumors NA BeFree,GAD Detail
<0.001 Hepatitis, Autoimmune NA BeFree Detail
0.002 Dyslipidemias NA GAD Detail
0.016 Malignant neoplasm of lung NA BeFree,GAD Detail
<0.001 Somatotropin deficiency NA BeFree Detail
0.002 cervix carcinoma NA GAD Detail
<0.001 Adenocarcinoma of colon NA BeFree Detail
<0.001 Chronic liver disease NA BeFree Detail
<0.001 Primary hypercholesterolemia No effect of CYP3A4 intron 6 C>T polymorphism (CYP3A4*22) on lipid-lowering resp... BeFree 25274942 Detail
<0.001 Absence of pain sensation NA BeFree Detail
0.005 Malignant neoplasm of liver NA GAD Detail
<0.001 Infusion related reaction Two SNPs associated with docetaxel toxicity were identified: CYP3A4*1B with infu... BeFree 25495407 Detail
0.051 Malignant neoplasm of prostate Levels of enzymes that determine testosterone catabolism such as CYP3A4 have bee... BeFree,GAD 24924803 Detail
0.051 Malignant neoplasm of prostate Association between cytochrome CYP17A1, CYP3A4, and CYP3A43 polymorphisms and pr... BeFree,GAD 25337833 Detail
<0.001 Non-alcoholic Fatty Liver Disease NA BeFree Detail
<0.001 Osteomalacia secondary to drug NA BeFree Detail
<0.001 neuropathy Whole-exome sequencing reveals defective CYP3A4 variants predictive of paclitaxe... BeFree 25398452 Detail
<0.001 endometrial carcinoma NA BeFree Detail
0.003 Metabolic syndrome X NA BeFree,GAD Detail
<0.001 Hepatitis C, Chronic NA BeFree Detail
0.002 Malignant neoplasm of esophagus NA GAD Detail
0.002 Thyroid carcinoma NA GAD Detail
<0.001 Lower Urinary Tract Symptoms NA BeFree Detail
0.004 breast carcinoma In multivariate analyses, we observed a significantly decreased risk of breast c... BeFree 19214745 Detail
0.050 Malignant neoplasm of breast In multivariate analyses, we observed a significantly decreased risk of breast c... BeFree 19214745 Detail
0.003 Carcinogenesis NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
0.008 prostate carcinoma Levels of enzymes that determine testosterone catabolism such as CYP3A4 have bee... BeFree 24924803 Detail
0.008 prostate carcinoma Association between cytochrome CYP17A1, CYP3A4, and CYP3A43 polymorphisms and pr... BeFree 25337833 Detail
0.003 Hot flushes Tamoxifen-associated hot flash severity is inversely correlated with endoxifen c... BeFree,GAD 24744093 Detail
0.002 Epithelial ovarian cancer NA GAD Detail
0.004 breast carcinoma The purpose of this study was to investigate the role of single nucleotide polym... BeFree 25410489 Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 Malignant neoplasm of gastrointestinal tract NA BeFree Detail
0.003 Tardive Dyskinesia NA BeFree,GAD Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
0.001 colon carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Central neuroblastoma Association of CYP3A4/5 genotypes and expression with the survival of patients w... BeFree 25370902 Detail
0.002 Helicobacter pylori infection NA GAD Detail
<0.001 21-hydroxylase deficiency NA BeFree Detail
<0.001 Enzyme inhibition disorder NA BeFree Detail
<0.001 Advanced cancer NA BeFree Detail
<0.001 Diffuse panbronchiolitis NA BeFree Detail
0.010 ovarian neoplasm NA GAD,LHGDN Detail
0.010 Acute coronary syndrome NA BeFree,GAD Detail
<0.001 Colorectal cancer metastatic NA BeFree Detail
0.007 Malignant neoplasm of ovary NA BeFree,GAD Detail
<0.001 Congenital long QT syndrome NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 Advanced cirrhosis NA BeFree Detail
<0.001 Adenocarcinoma of large intestine NA BeFree Detail
0.134 Mammary Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
0.008 colorectal cancer NA BeFree,GAD Detail
0.002 Renal Insufficiency NA GAD Detail
0.002 Delayed Graft Function NA GAD Detail
0.001 Cirrhosis NA BeFree Detail
0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
0.007 coronary artery disease NA GAD Detail
<0.001 Transformed migraine NA BeFree Detail
0.004 Precursor Cell Lymphoblastic Leukemia Lymphoma We genotyped eight common single-nucleotide polymorphisms (SNPs) in the CYP3A4 a... BeFree,GAD 25266680 Detail
0.007 liver carcinoma Establishment of cytochrome P450 3A4 and glutathione S-transferase A1-transfecte... BeFree,LHGDN 24782212 Detail
<0.001 Lipoprotein glomerulopathy NA BeFree Detail
<0.001 Steatohepatitis NA BeFree Detail
0.003 Treatment related leukaemia NA BeFree,GAD Detail
<0.001 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NA BeFree Detail
0.002 Prostatic Hyperplasia NA GAD Detail
0.002 myelodysplastic syndrome NA GAD Detail
0.002 acquired immunodeficiency syndrome NA GAD Detail
<0.001 adenocarcinoma NA BeFree Detail
<0.001 aplastic anemia NA BeFree Detail
<0.001 Cooley's anemia NA BeFree Detail
0.080 Anxiety Disorders NA RGD Detail
<0.001 arteriosclerosis NA BeFree Detail
0.003 asthma NA BeFree,GAD Detail
<0.001 atherosclerosis NA BeFree Detail
<0.001 azoospermia NA BeFree Detail
0.003 beta thalassemia NA LHGDN Detail
0.007 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.050 Malignant neoplasm of breast The purpose of this study was to investigate the role of single nucleotide polym... BeFree,GAD 25410489 Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
0.002 Non-small cell lung carcinoma NA GAD Detail
0.002 renal cell carcinoma NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In conclusion, we have described for the first time a significant correlation of statin treatment an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
CYP3A4*22 (c.522-191 C>T; rs35599367) is associated with lopinavir pharmacokinetics in HIV-positive ... DisGeNET Detail
CYP3A4 polymorphism and lopinavir toxicity in an HIV-infected pregnant woman. DisGeNET Detail
We evaluated EFV400 and EFV600 pharmacokinetics (NONMEM v. 7.2), assessing patient demographics and ... DisGeNET Detail
NA DisGeNET Detail
Polymorphism of CYP3A4 2 and eNOS genes in the diabetic patients with hyperlipidemia undergoing stat... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In the present study, the effects of artemisinin on pregnane X receptor (PXR)-mediated CYP3A express... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We genotyped eight common single-nucleotide polymorphisms (SNPs) in the CYP3A4 and CYP3A5 genes in 5... DisGeNET Detail
In interaction with gender a common CYP3A4 polymorphism may influence the survival rate of chemother... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Establishment of cytochrome P450 3A4 and glutathione S-transferase A1-transfected human hepatoma cel... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
When compared with the wild-type genotype, the variant genotypes rs5767743 and rs5767700 correlated ... DisGeNET Detail
NA DisGeNET Detail
Aim of this review is: (i) to describe the molecular mechanisms associated to statin induced myopath... DisGeNET Detail
No association between CYP3A4*22 and statin effectiveness in reducing the risk for myocardial infarc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Association of CYP3A4/5 genotypes and expression with the survival of patients with neuroblastoma. DisGeNET Detail
NA DisGeNET Detail
In the small intestine and colon, no changes of CYP enzymes were detected except for increased expre... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Both aripiprazole and haloperidol have been used in the treatment of schizophrenia, and are metaboli... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Phenprocoumon is an anticoagulant used for thromboembolic disorder prophylaxis metabolized mainly by... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
No effect of CYP3A4 intron 6 C>T polymorphism (CYP3A4*22) on lipid-lowering response to statins in G... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Two SNPs associated with docetaxel toxicity were identified: CYP3A4*1B with infusion-related reactio... DisGeNET Detail
Levels of enzymes that determine testosterone catabolism such as CYP3A4 have been associated with pr... DisGeNET Detail
Association between cytochrome CYP17A1, CYP3A4, and CYP3A43 polymorphisms and prostate cancer risk a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Whole-exome sequencing reveals defective CYP3A4 variants predictive of paclitaxel dose-limiting neur... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wit... DisGeNET Detail
In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wit... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Levels of enzymes that determine testosterone catabolism such as CYP3A4 have been associated with pr... DisGeNET Detail
Association between cytochrome CYP17A1, CYP3A4, and CYP3A43 polymorphisms and prostate cancer risk a... DisGeNET Detail
Tamoxifen-associated hot flash severity is inversely correlated with endoxifen concentration and CYP... DisGeNET Detail
NA DisGeNET Detail
The purpose of this study was to investigate the role of single nucleotide polymorphism in the ABCB1... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Association of CYP3A4/5 genotypes and expression with the survival of patients with neuroblastoma. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We genotyped eight common single-nucleotide polymorphisms (SNPs) in the CYP3A4 and CYP3A5 genes in 5... DisGeNET Detail
Establishment of cytochrome P450 3A4 and glutathione S-transferase A1-transfected human hepatoma cel... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The purpose of this study was to investigate the role of single nucleotide polymorphism in the ABCB1... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
rs386580934 dbSNP
Genome
hg19
Position
chr7:99,354,583-99,381,871
Variant Type
snv
Genome browser