chr16:88643275:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,709,683-88,717,491 |
| hg38 | chr16:88,643,275-88,651,083 |
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 | Carotid Artery Diseases | NA | GAD | Detail | |
| <0.001 | intracranial aneurysm | NA | BeFree | Detail | |
| 0.002 | intracranial arteriosclerosis | NA | GAD | Detail | |
| 0.002 | cerebral infarction | NA | GAD | Detail | |
| 0.002 | brain ischemia | NA | GAD | Detail | |
| <0.001 | Transient ischemic attack | NA | BeFree | Detail | |
| 0.002 | Cerebrovascular Disorders | NA | GAD | Detail | |
| <0.001 | Malignant tumor of cervix | The role of CYBA (p22phox) and catalase genetic polymorphisms and their possible... | BeFree | 25307973 | Detail |
| <0.001 | ulcerative colitis | NADPH oxidase p22phox gene expression in ulcerative colitis. | BeFree | 25599773 | Detail |
| 0.028 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.003 | coronary artery vasospasm | NA | BeFree,GAD | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| 0.001 | diabetes mellitus | NA | BeFree | Detail | |
| 0.200 | Diabetes Mellitus, Experimental | NA | CTD_human,RGD | Detail | |
| 0.006 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
| 0.135 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,CTD_human,GAD | Detail | |
| 0.009 | Diabetic Nephropathy | No significant difference was observed in the genotype and allele distribution o... | BeFree,GAD,LHGDN | 25041504 | Detail |
| 0.080 | diabetic retinopathy | NA | RGD | Detail | |
| 0.002 | DNA Damage | NA | GAD | Detail | |
| 0.247 | chronic granulomatous disease | NA | BeFree,CTD_human,LHGDN,ORPHANET | Detail | |
| 0.122 | Heart Diseases | NA | CTD_human,GAD | Detail | |
| <0.001 | hepatitis C | Given the important contribution of the nicotinamide adenine dinucleotide phosph... | BeFree | 25888935 | Detail |
| 0.006 | Hypercholesterolemia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.248 | Hypertensive disease | NA | BeFree,CTD_human,GAD,LHGDN,RGD | Detail | |
| 0.080 | pulmonary hypertension | NA | RGD | Detail | |
| 0.003 | Infarction | NA | LHGDN | Detail | |
| 0.005 | Insulin resistance | NA | GAD | Detail | |
| 0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.003 | Kidney Failure, Acute | NA | BeFree,GAD | Detail | |
| 0.208 | Kidney Failure, Chronic | NA | BeFree,CTD_human,GAD,LHGDN,RGD | Detail | |
| 0.003 | leukemia | NA | LHGDN | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.003 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
| 0.008 | Lymphoma, Non-Hodgkin | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.031 | coronary artery disease | 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 |
| <0.001 | hyperuricemia | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
| 0.086 | myocardial infarction | NA | BeFree,GAD,RGD | Detail | |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| 0.003 | Degenerative polyarthritis | NA | BeFree,LHGDN | Detail | |
| 0.008 | Cardiovascular Diseases | We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... | BeFree | 24933031 | Detail |
| 0.027 | Coronary heart disease | We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... | BeFree | 24933031 | Detail |
| 0.002 | Peptic Ulcer | NA | GAD | Detail | |
| 0.002 | periodontitis | NA | GAD | Detail | |
| 0.003 | Periodontitis, Juvenile | NA | BeFree,GAD | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| 0.080 | Reperfusion Injury | NA | RGD | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| <0.001 | systemic scleroderma | NA | BeFree | Detail | |
| 0.013 | Cerebrovascular accident | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | tetralogy of Fallot | NA | BeFree,LHGDN | Detail | |
| 0.002 | Helicobacter Infections | NA | GAD | Detail | |
| <0.001 | diffuse large B-cell lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| <0.001 | Left Ventricular Hypertrophy | NA | BeFree | Detail | |
| <0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| <0.001 | Disease of capillaries | NA | BeFree | Detail | |
| 0.009 | Diabetic Nephropathy | No significant difference was observed in the genotype and allele distribution o... | BeFree | 25041504 | Detail |
| 0.003 | coronary stenosis | NA | LHGDN | Detail | |
| 0.005 | Oxidative Stress | NA | GAD | Detail | |
| <0.001 | Familial eosinophilia | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | The role of CYBA (p22phox) and catalase genetic polymorphisms and their possible... | BeFree | 25307973 | Detail |
| <0.001 | Restenosis | NA | BeFree | Detail | |
| <0.001 | High altitude pulmonary edema | NA | BeFree | Detail | |
| 0.002 | Complications of Diabetes Mellitus | NA | GAD | Detail | |
| <0.001 | Primary immune deficiency disorder | NA | BeFree | Detail | |
| 0.002 | neuropathy | NA | GAD | Detail | |
| 0.003 | Sleep Apnea, Obstructive | NA | BeFree,GAD | Detail | |
| <0.001 | Carotid Atherosclerosis | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | hyperuricemia | NA | BeFree | Detail | |
| 0.003 | brain infarction | NA | BeFree,GAD | Detail | |
| 0.002 | Carcinoma in situ of uterine cervix | NA | GAD | Detail | |
| <0.001 | Cerebral Aneurysm | NA | BeFree | Detail | |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| 0.002 | Acute coronary syndrome | NA | GAD | Detail | |
| <0.001 | Infiltrating Cervical Carcinoma | The CYBA C-242T and CAT C-262T genetic polymorphisms and their epistatic interac... | BeFree | 25307973 | Detail |
| <0.001 | Peripheral Arterial Diseases | NA | BeFree | Detail | |
| 0.031 | coronary artery disease | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Chronic kidney disease stage 5 | NA | BeFree | Detail | |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| <0.001 | Autosomal Recessive Chronic Granulomatous Disease | NA | BeFree | Detail | |
| 0.002 | agranulocytosis | NA | GAD | Detail | |
| 0.002 | Albuminuria | NA | GAD | Detail | |
| 0.002 | Angina Pectoris | NA | GAD | Detail | |
| 0.003 | arteriosclerosis | NA | BeFree | Detail | |
| 0.015 | asthma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.145 | atherosclerosis | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.002 | Bronchiolitis, Viral | NA | GAD | Detail | |
| 0.002 | candidiasis | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The role of CYBA (p22phox) and catalase genetic polymorphisms and their possible epistatic interacti... | DisGeNET | Detail |
| NADPH oxidase p22phox gene expression in ulcerative colitis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| No significant difference was observed in the genotype and allele distribution of eNOS -786T > C, in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Given the important contribution of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase ... | 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 |
| NA | DisGeNET | Detail |
| We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... | DisGeNET | Detail |
| We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... | 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 significant difference was observed in the genotype and allele distribution of eNOS -786T > C,... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The role of CYBA (p22phox) and catalase genetic polymorphisms and their possible epistatic interacti... | 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 CYBA C-242T and CAT C-262T genetic polymorphisms and their epistatic interactions can be associa... | 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 |
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
- hg38
- Position
- chr16:88,643,275-88,651,083
- Variant Type
- snv
Genome browser