chr16:56995835:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:56,995,835-57,017,757 |
| hg38 | chr16:56,961,923-56,983,845 |
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 |
|---|---|---|---|---|---|
| 0.201 | Cardiovascular Diseases | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.005 | Carotid Artery Diseases | NA | GAD | Detail | |
| <0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19424605 | Detail |
| 0.002 | cellulitis | NA | GAD | Detail | |
| 0.007 | brain ischemia | NA | GAD | Detail | |
| 0.005 | cholelithiasis | NA | BeFree,GAD | Detail | |
| 0.002 | chorioamnionitis | NA | GAD | Detail | |
| 0.003 | Cessation of life | NA | LHGDN | Detail | |
| 0.002 | Sudden death | NA | GAD | Detail | |
| <0.001 | Presenile dementia | NA | BeFree | Detail | |
| 0.003 | Dementia, Vascular | NA | BeFree,GAD | Detail | |
| 0.002 | Diabetes | NA | BeFree | Detail | |
| 0.010 | diabetes mellitus | NA | BeFree,GAD,LHGDN | Detail | |
| 0.043 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
| 0.002 | Diabetic Angiopathies | NA | GAD | Detail | |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| 0.002 | patent ductus arteriosus | NA | GAD | Detail | |
| <0.001 | Fatty Liver | NA | BeFree | Detail | |
| 0.002 | Fetal Membranes, Premature Rupture | NA | GAD | Detail | |
| <0.001 | Gall Bladder Diseases | NA | BeFree | Detail | |
| 0.002 | generalized atherosclerosis | NA | GAD | Detail | |
| 0.002 | Heart Diseases | NA | GAD | Detail | |
| 0.003 | HIV Infections | NA | BeFree,GAD | Detail | |
| 0.032 | Hypercholesterolemia | NA | BeFree,GAD | Detail | |
| 0.133 | Hypercholesterolemia, Familial | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| <0.001 | hyperinsulinism | NA | BeFree | Detail | |
| 0.135 | Hyperlipidemia | Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with ... | BeFree,CTD_human,GAD | 25110219 | Detail |
| 0.003 | Hyperlipidemia, Familial Combined | Changes in CETP activity and mass were comparable for FHA (-31.5, +120.9%) and F... | BeFree,GAD | 25281277 | Detail |
| 0.127 | Hyperlipoproteinemias | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | hyperlipoproteinemia type III | NA | BeFree | Detail | |
| 0.137 | Hypertensive disease | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | hyperthyroidism | NA | BeFree | Detail | |
| 0.130 | Hypertriglyceridemia | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.002 | hypopituitarism | NA | GAD | Detail | |
| <0.001 | hypothyroidism | NA | BeFree | Detail | |
| 0.005 | Inflammation | NA | GAD | Detail | |
| 0.002 | Insulin resistance | NA | GAD | Detail | |
| 0.005 | Kidney Diseases | NA | GAD,LHGDN | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| 0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
| 0.002 | Lipid Metabolism, Inborn Errors | NA | GAD | Detail | |
| <0.001 | Hyperlipoproteinemia Type I | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.002 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| <0.001 | macular degeneration | NA | BeFree | Detail | |
| 0.005 | Memory Disorders | NA | GAD | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.068 | myocardial infarction | Bioinformatic analysis of this differential gene-set for associated pathways rev... | BeFree,GAD,LHGDN | 24801707 | Detail |
| 0.005 | nephrotic syndrome | NA | GAD,LHGDN | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.005 | pre-eclampsia | NA | GAD | Detail | |
| <0.001 | retinopathy of prematurity | NA | BeFree | Detail | |
| <0.001 | schistosomiasis | NA | BeFree | Detail | |
| 0.008 | Cerebrovascular accident | NA | BeFree,GAD | Detail | |
| 0.002 | thrombosis | NA | GAD | Detail | |
| 0.007 | Vascular Diseases | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Virilism | NA | GAD | Detail | |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| 0.013 | Myocardial Ischemia | NA | BeFree,GAD | Detail | |
| 0.002 | Lipid Metabolism Disorders | NA | GAD | Detail | |
| <0.001 | Atherosclerosis of aorta | NA | BeFree | Detail | |
| <0.001 | Disease of capillaries | NA | BeFree | Detail | |
| <0.001 | Aortic Aneurysm, Abdominal | NA | BeFree | Detail | |
| 0.002 | Memory impairment | NA | GAD | Detail | |
| 0.008 | coronary stenosis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.135 | Dyslipidemias | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | GAD | Detail | |
| 0.120 | Exudative age-related macular degeneration | NA | GWASCAT | Detail | |
| <0.001 | Impaired glucose tolerance | NA | BeFree | Detail | |
| <0.001 | Obesity, Abdominal | NA | BeFree | Detail | |
| 0.003 | Restenosis | NA | BeFree,GAD | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | Population-based analysis of cholesteryl ester transfer protein identifies assoc... | BeFree | 25260850 | Detail |
| <0.001 | Proliferative retinopathy | NA | BeFree | Detail | |
| <0.001 | Adrenocorticotropic hormone (ACTH) deficiency (disorder) | NA | BeFree | Detail | |
| <0.001 | Primary hypercholesterolemia | NA | BeFree | Detail | |
| <0.001 | Non-alcoholic Fatty Liver Disease | NA | BeFree | Detail | |
| 0.010 | dementia | NA | BeFree,GAD | Detail | |
| 0.002 | body mass | NA | GAD | Detail | |
| 0.142 | Metabolic syndrome X | Studies of the CETP TaqIB and ApoE Polymorphisms in Southern Thai Subjects with ... | BeFree,GAD,GWASCAT | 26014924 | Detail |
| 0.003 | Carotid Atherosclerosis | NA | BeFree,GAD | Detail | |
| <0.001 | biliary tract cancer | NA | BeFree | Detail | |
| <0.001 | Arteriopathic disease | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | Cholesterol gallstones | NA | BeFree | Detail | |
| 0.003 | cholecystolithiasis | NA | BeFree,GAD | Detail | |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| 0.009 | Acute coronary syndrome | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Macroangiopathy | NA | BeFree,GAD | Detail | |
| 0.002 | Blood pressure finding | NA | GAD | Detail | |
| 0.005 | Systemic arterial pressure | NA | GAD | Detail | |
| <0.001 | Avellino corneal dystrophy | NA | BeFree | Detail | |
| <0.001 | differentiated thyroid gland carcinoma | NA | BeFree | Detail | |
| 0.007 | Hypertriglyceridemia result | NA | GAD | Detail | |
| 0.002 | colorectal cancer | NA | GAD | Detail | |
| <0.001 | Chronic Kidney Diseases | Four polymorphisms in APOA5, TOMM40, and CETP were shown to be significantly ass... | BeFree | 25311932 | Detail |
| <0.001 | Hypoalphalipoproteinemia, Familial | Changes in CETP activity and mass were comparable for FHA (-31.5, +120.9%) and F... | BeFree | 25281277 | Detail |
| 0.002 | Venous thromboembolism | NA | GAD | Detail | |
| 0.002 | Memory Impairment Adverse Event | NA | GAD | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Steatohepatitis | These results show that the Fc-CETP6 vaccine efficiently elicited antibodies aga... | BeFree | 25486007 | Detail |
| <0.001 | Alcoholic Steatohepatitis | A vaccine targeted at CETP alleviates high fat and high cholesterol diet-induced... | BeFree | 25486007 | Detail |
| 0.002 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | NA | GAD | Detail | |
| <0.001 | Obesity, Visceral | NA | BeFree | Detail | |
| 0.247 | hyperalphalipoproteinemia 1 | NA | BeFree,CTD_human,UNIPROT | Detail | |
| <0.001 | HEPATIC LIPASE DEFICIENCY (disorder) | NA | BeFree | Detail | |
| <0.001 | Insulin resistance syndrome | NA | BeFree | Detail | |
| 0.002 | Spontaneous abortion | NA | GAD | Detail | |
| 0.021 | Alzheimer's disease | Cholesterol has been implicated in the pathogenesis of late-onset Alzheimer's di... | BeFree,GAD,LHGDN | 25260850 | Detail |
| 0.002 | amyotrophic lateral sclerosis | NA | GAD | Detail | |
| <0.001 | Anemia of chronic disease | NA | BeFree | Detail | |
| <0.001 | aortic aneurysm | NA | BeFree | Detail | |
| 0.022 | arteriosclerosis | A vaccine targeted at CETP alleviates high fat and high cholesterol diet-induced... | BeFree,GAD | 25486007 | Detail |
| 0.002 | asthma | NA | GAD | Detail | |
| 0.048 | atherosclerosis | A vaccine targeted at CETP alleviates high fat and high cholesterol diet-induced... | BeFree,GAD,LHGDN | 25486007 | Detail |
| 0.013 | atrial fibrillation | NA | GAD,LHGDN | Detail | |
| 0.002 | Biliary Tract Neoplasm | NA | GAD | Detail | |
| 0.005 | Malignant neoplasm of urinary bladder | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with hyperlipidemia in th... | DisGeNET | Detail |
| Changes in CETP activity and mass were comparable for FHA (-31.5, +120.9%) and FCH (-26.6, +111.9%),... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| Bioinformatic analysis of this differential gene-set for associated pathways revealed 1) increasing ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| Population-based analysis of cholesteryl ester transfer protein identifies association between I405V... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Studies of the CETP TaqIB and ApoE Polymorphisms in Southern Thai Subjects with the Metabolic Syndro... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| Four polymorphisms in APOA5, TOMM40, and CETP were shown to be significantly associated with CKD ris... | DisGeNET | Detail |
| Changes in CETP activity and mass were comparable for FHA (-31.5, +120.9%) and FCH (-26.6, +111.9%),... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These results show that the Fc-CETP6 vaccine efficiently elicited antibodies against CETP and reduce... | DisGeNET | Detail |
| A vaccine targeted at CETP alleviates high fat and high cholesterol diet-induced atherosclerosis and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Cholesterol has been implicated in the pathogenesis of late-onset Alzheimer's disease (LOAD) and the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A vaccine targeted at CETP alleviates high fat and high cholesterol diet-induced atherosclerosis and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A vaccine targeted at CETP alleviates high fat and high cholesterol diet-induced atherosclerosis and... | 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
- rs386605145 dbSNP
- Genome
- hg19
- Position
- chr16:56,995,835-57,017,757
- Variant Type
- snv
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