chr2:170440852:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:170,440,852-170,497,916 |
| hg38 | chr2:169,584,342-169,641,406 |
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 |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | cerebral infarction | NA | BeFree | Detail | |
| <0.001 | Congenital clubfoot | NA | BeFree | Detail | |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Coronary Arteriosclerosis | CYP 450 2C19 polymorphisms in Indian patients with coronary artery disease. | BeFree | 24581091 | Detail |
| <0.001 | Coronary heart disease | CYP 450 2C19 polymorphisms in Indian patients with coronary artery disease. | BeFree | 24581091 | Detail |
| <0.001 | Mental Depression | NA | BeFree | Detail | |
| <0.001 | depressive disorder | NA | BeFree | Detail | |
| <0.001 | scleroderma | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | A genetic predisposition for MRONJ, coupled with CYP 450 gene alterations, has b... | BeFree | 25477311 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| <0.001 | endometriosis | NA | BeFree | Detail | |
| 0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| 0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| 0.002 | Hypertensive disease | NA | BeFree | Detail | |
| <0.001 | hypothyroidism | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | Fibroid Tumor | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | liver cirrhosis | NA | BeFree | Detail | |
| 0.002 | Liver diseases | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | lymphoma | We evaluated the influence of single nucleotide polymorphisms (SNPs) of CYP enzy... | BeFree | 25677220 | Detail |
| <0.001 | malaria | NA | BeFree | Detail | |
| <0.001 | Malaria, Falciparum | Artemisinin-based combinations currently recommended for treatment of uncomplica... | BeFree | 25363545 | Detail |
| <0.001 | Malignant neoplasm of stomach | Risk analysis revealed that there was increased risk for gastric cancer in subje... | BeFree | 26373042 | Detail |
| <0.001 | Inborn errors of metabolism | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | obesity | Results of our study suggest that the specific content and activities of some li... | BeFree | 25998026 | Detail |
| <0.001 | obsessive-compulsive disorder | NA | BeFree | Detail | |
| <0.001 | oral submucous fibrosis | NA | BeFree | Detail | |
| <0.001 | osteochondritis dissecans | NA | BeFree | Detail | |
| <0.001 | Pain | NA | BeFree | Detail | |
| <0.001 | systemic scleroderma | NA | BeFree | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| <0.001 | Tobacco Dependence | NA | BeFree | Detail | |
| <0.001 | tuberculosis | NA | BeFree | Detail | |
| <0.001 | Uterine Fibroids | NA | BeFree | Detail | |
| <0.001 | Virus Diseases | NA | BeFree | Detail | |
| <0.001 | Bronchial Hyperreactivity | NA | BeFree | Detail | |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | Oral Cavity Carcinoma | NA | BeFree | Detail | |
| <0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | lingual-facial-buccal dyskinesia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of mouth | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gallbladder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of testis | NA | BeFree | Detail | |
| <0.001 | Lung Diseases, Interstitial | NA | BeFree | Detail | |
| <0.001 | Lichen Planus, Oral | NA | BeFree | Detail | |
| <0.001 | adrenocortical carcinoma | NA | BeFree | Detail | |
| <0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
| <0.001 | gallbladder carcinoma | NA | BeFree | Detail | |
| <0.001 | Hepatitis, Autoimmune | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Adenoma of lung | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of vulva | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Non-alcoholic Fatty Liver Disease | Together, these results highlight a new role for CYP epoxygenase-derived EETs in... | BeFree | 25389366 | Detail |
| <0.001 | multiple myeloma | To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes ... | BeFree | 18381704 | Detail |
| <0.001 | Hepatitis B, Chronic | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.001 | Chemical Carcinogenesis | NA | BeFree | Detail | |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Hot flushes | NA | BeFree | Detail | |
| 0.003 | breast carcinoma | NA | BeFree | Detail | |
| 0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Tardive Dyskinesia | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| 0.001 | stomach carcinoma | Risk analysis revealed that there was increased risk for gastric cancer in subje... | BeFree | 26373042 | Detail |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Substance abuse problem | NA | BeFree | Detail | |
| <0.001 | End Stage Liver Disease | The expression of CYP enzyme genes and corresponding nuclear receptors was gener... | BeFree | 25024626 | Detail |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Testicular malignant germ cell tumor | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | Vascular inflammations | NA | BeFree | Detail | |
| <0.001 | Acute coronary syndrome | Clopidogrel is an antiplatelet agent widely prescribed for acute coronary syndro... | BeFree | 25660101 | Detail |
| <0.001 | Hepatitis, Drug-Induced | NA | BeFree | Detail | |
| <0.001 | Uroporphyrinuria | NA | BeFree | Detail | |
| <0.001 | autoimmune lymphoproliferative syndrome | NA | BeFree | Detail | |
| <0.001 | Cardiac fibrosis | CYP epoxygenase 2J2 prevents cardiac fibrosis by suppression of transmission of ... | BeFree | 25686540 | Detail |
| <0.001 | Mammary Tumorigenesis | The effect on mammary tumorigenesis was largely due to down-regulation of CYP 1A... | BeFree | 24245576 | Detail |
| 0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Cirrhosis | NA | BeFree | Detail | |
| <0.001 | coronary artery disease | CYP 450 2C19 polymorphisms in Indian patients with coronary artery disease. | BeFree | 24581091 | Detail |
| 0.003 | liver carcinoma | The expression of CYP enzyme genes and corresponding nuclear receptors was gener... | BeFree | 25024626 | Detail |
| 0.003 | liver carcinoma | The expression levels of CYP and uridine diphosphate-glucuronosyl transferase (U... | BeFree | 25366484 | Detail |
| 0.003 | liver carcinoma | The effect of CYP, GST, and SULT polymorphisms and their interaction with smokin... | BeFree | 25654087 | Detail |
| <0.001 | congenital adrenal hyperplasia | A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted i... | BeFree | 25319875 | Detail |
| <0.001 | Airway Obstruction | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | The readers will gain insight into i) the classification of epigenetic drugs; ii... | BeFree | 24989365 | Detail |
| <0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| <0.001 | Mental disorders | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP 450 2C19 polymorphisms in Indian patients with coronary artery disease. | DisGeNET | Detail |
| CYP 450 2C19 polymorphisms in Indian patients with coronary artery disease. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A genetic predisposition for MRONJ, coupled with CYP 450 gene alterations, has been suggested to aff... | 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 evaluated the influence of single nucleotide polymorphisms (SNPs) of CYP enzymes on the efficacy ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Artemisinin-based combinations currently recommended for treatment of uncomplicated Plasmodium falci... | DisGeNET | Detail |
| Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alle... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Results of our study suggest that the specific content and activities of some liver CYP enzymes (esp... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Together, these results highlight a new role for CYP epoxygenase-derived EETs in lipotoxicity-relate... | DisGeNET | Detail |
| To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes [CASP3 Ex8-280 C >... | 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 |
| Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alle... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The expression of CYP enzyme genes and corresponding nuclear receptors was generally decreased in en... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Clopidogrel is an antiplatelet agent widely prescribed for acute coronary syndrome (ACS), and it is ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP epoxygenase 2J2 prevents cardiac fibrosis by suppression of transmission of pro-inflammation fro... | DisGeNET | Detail |
| The effect on mammary tumorigenesis was largely due to down-regulation of CYP 1A1 and ER-α gene expr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CYP 450 2C19 polymorphisms in Indian patients with coronary artery disease. | DisGeNET | Detail |
| The expression of CYP enzyme genes and corresponding nuclear receptors was generally decreased in en... | DisGeNET | Detail |
| The expression levels of CYP and uridine diphosphate-glucuronosyl transferase (UGT) are lower in hep... | DisGeNET | Detail |
| The effect of CYP, GST, and SULT polymorphisms and their interaction with smoking on the risk of hep... | DisGeNET | Detail |
| A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The readers will gain insight into i) the classification of epigenetic drugs; ii) the mechanisms 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 |
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
- rs39001150 dbSNP
- Genome
- hg19
- Position
- chr2:170,440,852-170,497,916
- Variant Type
- snv
Genome browser