chr11:116700623:> Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:116,700,623-116,703,788 |
hg38 | chr11:116,829,907-116,833,072 |
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 |
---|---|---|---|---|---|
0.135 | Cardiovascular Diseases | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
0.002 | Cerebrovascular Disorders | NA | GAD | Detail | |
0.005 | cholelithiasis | NA | BeFree,GAD | Detail | |
0.080 | cholestasis | NA | RGD | Detail | |
0.002 | chorioamnionitis | NA | GAD | Detail | |
0.033 | Coronary Arteriosclerosis | Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary ... | BeFree,GAD | 25380998 | Detail |
0.144 | Coronary heart disease | Two new studies report that triglyceride (TG)-lowering mutations in APOC3 reduce... | BeFree,CLINVAR,GAD,LHGDN | 25185943 | Detail |
0.144 | Coronary heart disease | Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary ... | BeFree,CLINVAR,GAD,LHGDN | 25380998 | Detail |
0.144 | Coronary heart disease | Furthermore, identification of rare loss-of-function variants in genes such as P... | BeFree,CLINVAR,GAD,LHGDN | 26477595 | Detail |
0.120 | Drug Eruptions | NA | CTD_human | Detail | |
0.002 | Diabetes | NA | BeFree | Detail | |
0.002 | diabetes mellitus | NA | BeFree | Detail | |
0.086 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD,RGD | Detail | |
0.037 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
0.011 | Diabetic Nephropathy | NA | BeFree,GAD,LHGDN | Detail | |
0.003 | Fatty Liver | NA | BeFree,GAD | Detail | |
0.002 | Fetal Membranes, Premature Rupture | NA | GAD | Detail | |
0.005 | generalized atherosclerosis | NA | GAD | Detail | |
0.002 | Heart Diseases | NA | GAD | Detail | |
0.003 | hepatitis B | NA | LHGDN | Detail | |
0.002 | hepatitis C | NA | GAD | Detail | |
0.006 | HIV Infections | NA | BeFree,GAD | Detail | |
0.006 | Hypercholesterolemia | NA | BeFree,GAD | Detail | |
0.122 | Hypercholesterolemia, Familial | NA | CTD_human,GAD | Detail | |
0.006 | hyperglycemia | NA | BeFree,GAD,LHGDN | Detail | |
0.016 | Hyperlipidemia | When stratifying by hyperlipidemia, CAD patients with hyperlipidemia had a signi... | BeFree,GAD,LHGDN | 25380998 | Detail |
0.004 | Hyperlipidemia, Familial Combined | NA | BeFree,GAD | Detail | |
0.120 | Hyperlipoproteinemias | NA | CTD_human | Detail | |
0.003 | hyperlipoproteinemia type III | NA | BeFree,GAD | Detail | |
0.005 | Hypertensive disease | NA | BeFree,GAD | Detail | |
0.080 | hyperthyroidism | NA | RGD | Detail | |
0.042 | Hypertriglyceridemia | NA | GAD,LHGDN | Detail | |
0.080 | hypothyroidism | NA | RGD | Detail | |
0.002 | Inflammation | NA | GAD | Detail | |
0.089 | Insulin resistance | NA | GAD,RGD | Detail | |
0.002 | ischemia | NA | GAD | Detail | |
<0.001 | Kidney Diseases | NA | BeFree | Detail | |
0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
0.001 | lipodystrophy | NA | BeFree | Detail | |
<0.001 | Hyperlipoproteinemia Type I | NA | BeFree | Detail | |
0.003 | Liver diseases | NA | BeFree,GAD | Detail | |
<0.001 | Liver neoplasms | NA | BeFree | Detail | |
0.120 | Lung Neoplasms | NA | CTD_human | Detail | |
0.150 | coronary artery disease | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
0.003 | hyperuricemia | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
0.006 | Hypercholesterolemia | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
0.016 | myocardial infarction | NA | BeFree,GAD | Detail | |
<0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
0.012 | obesity | No association was found between the APOC3 (-455T>C) polymorphism and obesity, i... | BeFree,GAD | 25320541 | Detail |
0.002 | pre-eclampsia | NA | GAD | Detail | |
0.003 | Retinal Diseases | NA | BeFree,GAD | Detail | |
<0.001 | schizophrenia | NA | BeFree | Detail | |
0.003 | Cerebrovascular accident | NA | BeFree,GAD | Detail | |
<0.001 | Vascular Diseases | NA | BeFree | Detail | |
0.002 | Premature Birth | NA | GAD | Detail | |
<0.001 | Myocardial Ischemia | Likelihood ratio test showed a strong interaction for increasing risk of early I... | BeFree | 24656450 | Detail |
0.005 | Lipid Metabolism Disorders | NA | BeFree,GAD | Detail | |
<0.001 | hepatoblastoma | NA | BeFree | Detail | |
<0.001 | Intestinal carcinoma | NA | BeFree | Detail | |
0.019 | Dyslipidemias | NA | BeFree,GAD,LHGDN | Detail | |
0.002 | age related macular degeneration | NA | GAD | Detail | |
0.001 | Congenital Disorders of Glycosylation | NA | BeFree | Detail | |
0.003 | Obesity, Abdominal | NA | BeFree,GAD | Detail | |
0.002 | Restenosis | NA | GAD | Detail | |
<0.001 | Maturity onset diabetes mellitus in young | NA | BeFree | Detail | |
<0.001 | Cholesteryl Ester Transfer Protein Deficiency | NA | BeFree | Detail | |
0.002 | Non-alcoholic Fatty Liver Disease | Lack of association between apolipoprotein C3 gene polymorphisms and risk of non... | BeFree | 24707151 | Detail |
0.002 | Non-alcoholic Fatty Liver Disease | Apolipoprotein C3 gene polymorphisms in Southern Indian patients with nonalcohol... | BeFree | 25319715 | Detail |
0.002 | Non-alcoholic Fatty Liver Disease | Apolipoprotein C3 (-455T>C) polymorphism confers susceptibility to nonalcoholic ... | BeFree | 25320541 | Detail |
0.002 | Hypoalphalipoproteinemias | NA | GAD | Detail | |
<0.001 | Overweight | NA | BeFree | Detail | |
0.002 | body mass | NA | GAD | Detail | |
0.101 | Metabolic syndrome X | Western dietary pattern interaction with APOC3 polymorphism in the risk of metab... | BeFree,GAD,LHGDN,RGD | 25301527 | Detail |
0.101 | Metabolic syndrome X | Dietary patterns interact with APOA1/APOC3 polymorphisms to alter the risk of th... | BeFree,GAD,LHGDN,RGD | 25653052 | Detail |
<0.001 | Hepatitis C, Chronic | NA | BeFree | Detail | |
<0.001 | Hypotriglyceridaemia | NA | BeFree | Detail | |
0.002 | Carotid Atherosclerosis | NA | GAD | Detail | |
<0.001 | breast carcinoma | NA | BeFree | Detail | |
0.003 | hyperuricemia | NA | BeFree,GAD | Detail | |
0.003 | Pregnancy associated hypertension | NA | LHGDN | Detail | |
<0.001 | Fat redistribution | NA | BeFree | Detail | |
0.005 | cholecystolithiasis | NA | GAD | Detail | |
0.002 | Ischemic stroke | NA | GAD | Detail | |
<0.001 | Acute coronary syndrome | NA | BeFree | Detail | |
0.005 | HIV-Associated Lipodystrophy Syndrome | NA | GAD | Detail | |
0.002 | Blood pressure finding | NA | GAD | Detail | |
0.005 | Systemic arterial pressure | NA | GAD | Detail | |
0.001 | Lipoatrophy | NA | BeFree | Detail | |
0.026 | Hypertriglyceridemia result | NA | GAD | Detail | |
0.002 | colorectal cancer | NA | GAD | Detail | |
0.002 | Fibrinogen Adverse Event | NA | GAD | Detail | |
<0.001 | Hypoalphalipoproteinemia, Familial | NA | BeFree | Detail | |
0.002 | Venous thromboembolism | NA | GAD | Detail | |
0.150 | coronary artery disease | Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary ... | BeFree,CTD_human,GAD,LHGDN | 25380998 | Detail |
0.003 | liver carcinoma | NA | BeFree,LHGDN | Detail | |
<0.001 | Steatohepatitis | NA | BeFree | Detail | |
<0.001 | Combined hyperlipidemia | NA | BeFree | Detail | |
0.002 | Weight Loss Adverse Event | NA | GAD | 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 | |
0.002 | Hypertriglyceridemic Waist | NA | GAD | Detail | |
0.007 | Alzheimer's disease | NA | GAD | Detail | |
0.002 | amyotrophic lateral sclerosis | NA | GAD | Detail | |
0.002 | arteriosclerosis | NA | BeFree | Detail | |
<0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
0.010 | atherosclerosis | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary artery disease in a ... | DisGeNET | Detail |
Two new studies report that triglyceride (TG)-lowering mutations in APOC3 reduce coronary heart dise... | DisGeNET | Detail |
Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary artery disease in a ... | DisGeNET | Detail |
Furthermore, identification of rare loss-of-function variants in genes such as PCSK9, NPC1L1, APOC3 ... | 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 |
When stratifying by hyperlipidemia, CAD patients with hyperlipidemia had a significantly higher freq... | 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 |
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... | DisGeNET | Detail |
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... | DisGeNET | Detail |
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
No association was found between the APOC3 (-455T>C) polymorphism and obesity, impaired glucose tole... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Likelihood ratio test showed a strong interaction for increasing risk of early IHD between the prese... | 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 |
Lack of association between apolipoprotein C3 gene polymorphisms and risk of nonalcoholic fatty live... | DisGeNET | Detail |
Apolipoprotein C3 gene polymorphisms in Southern Indian patients with nonalcoholic fatty liver disea... | DisGeNET | Detail |
Apolipoprotein C3 (-455T>C) polymorphism confers susceptibility to nonalcoholic fatty liver disease ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Western dietary pattern interaction with APOC3 polymorphism in the risk of metabolic syndrome: Tehra... | DisGeNET | Detail |
Dietary patterns interact with APOA1/APOC3 polymorphisms to alter the risk of the metabolic syndrome... | 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 |
Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary artery disease in a ... | 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 |
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
- rs16874954 dbSNP
- Genome
- hg19
- Position
- chr11:116,700,623-116,703,788
- Variant Type
- snv
Genome browser