chr2:240868824:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:241,808,241-241,819,917 |
| hg38 | chr2:240,868,824-240,880,500 |
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 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| 0.001 | Coronary heart disease | Disease association analysis revealed that haplotype AGT influences CHD risk (OR... | BeFree | 24965144 | Detail |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| 0.002 | Diabetic Nephropathy | NA | BeFree | Detail | |
| <0.001 | eclampsia | NA | BeFree | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| <0.001 | subacute bacterial endocarditis | NA | BeFree | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glycogen storage disease type II | DNA was extracted and tested for GAA mutations and some genetic polymorphisms ab... | BeFree | 25103075 | Detail |
| <0.001 | Sensorineural Hearing Loss (disorder) | Furthermore, the AGT and GAC haplotypes were associated with a significantly hig... | BeFree | 26051414 | Detail |
| <0.001 | hepatitis | NA | BeFree | Detail | |
| <0.001 | hepatitis A | NA | BeFree | Detail | |
| <0.001 | hepatitis B | NA | BeFree | Detail | |
| <0.001 | homocystinuria | NA | BeFree | Detail | |
| <0.001 | Hereditary Sensory Autonomic Neuropathy, Type 1 | NA | BeFree | Detail | |
| <0.001 | Hyperaldosteronism | Among polymorphisms, only AGT M235T (P = 0.038) was associated with refractory h... | BeFree | 25036270 | Detail |
| <0.001 | Hypercholesterolemia | NA | BeFree | Detail | |
| 0.004 | Hyperoxaluria | NA | BeFree,GAD | Detail | |
| 0.011 | primary hyperoxaluria | NA | BeFree,LHGDN | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| 0.002 | Kidney Calculi | Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone di... | BeFree | 24718375 | Detail |
| 0.001 | Kidney Diseases | The study may conclude that the D allele polymorphism in the ACE gene and the T ... | BeFree | 24737640 | Detail |
| 0.001 | Kidney Diseases | Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a ... | BeFree | 25854853 | Detail |
| 0.001 | Kidney Failure, Chronic | M235T polymorphism in the AGT gene and A/G(I8-83) substitution in the REN gene c... | BeFree | 25660845 | Detail |
| <0.001 | leiomyosarcoma | NA | BeFree | Detail | |
| 0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| <0.001 | Inborn errors of metabolism | NA | BeFree | Detail | |
| <0.001 | Mitral Valve Prolapse Syndrome | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | nephrotic syndrome | NA | BeFree | Detail | |
| <0.001 | obesity | NA | BeFree | Detail | |
| <0.001 | Ovarian Diseases | NA | BeFree | Detail | |
| <0.001 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| <0.001 | periodontitis | NA | BeFree | Detail | |
| <0.001 | polycystic ovary syndrome | NA | BeFree | Detail | |
| 0.002 | kidney failure | NA | BeFree | Detail | |
| <0.001 | Respiratory Distress Syndrome, Adult | NA | BeFree | Detail | |
| <0.001 | Retinal Diseases | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| <0.001 | Turner syndrome | NA | BeFree | Detail | |
| <0.001 | viral hepatitis | NA | BeFree | Detail | |
| <0.001 | Tooth Loss | NA | BeFree | Detail | |
| <0.001 | Ovarian Failure, Premature | NA | BeFree | Detail | |
| 0.004 | essential hypertension | Risk conferred by tagged SNPs of AGT gene in causing susceptibility to essential... | BeFree | 24490766 | Detail |
| 0.004 | essential hypertension | ACE I/D, AGT M235T, and ADD Gly460Trp polymorphisms are thought to be associated... | BeFree | 25262176 | Detail |
| <0.001 | Left Ventricular Hypertrophy | NA | BeFree | Detail | |
| <0.001 | Migraine Disorders | NA | BeFree | Detail | |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| <0.001 | hypertensive heart disease | NA | BeFree | Detail | |
| <0.001 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| <0.001 | migraine with aura | NA | BeFree | Detail | |
| <0.001 | secondary hypertension | We suggest that RAS gene polymorphisms (ACE-I/D, AGT M235T) are significantly as... | BeFree | 25262176 | Detail |
| <0.001 | acute myocardial infarction | NA | BeFree | Detail | |
| <0.001 | Atherosclerosis of aorta | NA | BeFree | Detail | |
| <0.001 | allergic asthma | NA | BeFree | Detail | |
| <0.001 | pineoblastoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | primary hyperoxaluria type 2 | NA | BeFree | Detail | |
| <0.001 | inflammatory breast carcinoma | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Restenosis | The results showed that the distribution of AGT and REN polymorphisms were simil... | BeFree | 26102248 | Detail |
| <0.001 | Bleeding ulcer | NA | BeFree | Detail | |
| <0.001 | Generalized glycogen storage disease of infants | DNA was extracted and tested for GAA mutations and some genetic polymorphisms ab... | BeFree | 25103075 | Detail |
| <0.001 | nephrolithiasis | NA | BeFree | Detail | |
| <0.001 | Chronic rejection of renal transplant | NA | BeFree | Detail | |
| 0.001 | urolithiasis | NA | BeFree | Detail | |
| <0.001 | pricking of skin | NA | BeFree | Detail | |
| <0.001 | Metabolic syndrome X | NA | BeFree | Detail | |
| <0.001 | Maternal hypertension | NA | BeFree | Detail | |
| <0.001 | Carotid Atherosclerosis | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | nephronophthisis | NA | BeFree | Detail | |
| <0.001 | Microalbuminuria | NA | BeFree | Detail | |
| <0.001 | familial retinoblastoma | NA | BeFree | Detail | |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| <0.001 | Heart Failure, Systolic | NA | BeFree | Detail | |
| <0.001 | Left ventricular systolic dysfunction | We enrolled 109 consecutive patients with left ventricular systolic dysfunction ... | BeFree | 25036270 | Detail |
| <0.001 | Cauda Equina Paraganglioma | NA | BeFree | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | Chronic Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | NEPHROLITHIASIS, CALCIUM OXALATE | Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone di... | BeFree | 24718375 | Detail |
| <0.001 | ABLEPHARON-MACROSTOMIA SYNDROME | NA | BeFree | Detail | |
| 0.002 | coronary artery disease | The aim of the present study was to evaluate the role of AGT and REN gene polymo... | BeFree | 26102248 | Detail |
| 0.002 | liver carcinoma | NA | BeFree | Detail | |
| 0.001 | Chronic kidney disease stage 5 | M235T polymorphism in the AGT gene and A/G(I8-83) substitution in the REN gene c... | BeFree | 25660845 | Detail |
| <0.001 | Allergic rhinitis (disorder) | According to the analysis of the three strong positive SNPs, the haplotype of AG... | BeFree | 25594855 | Detail |
| <0.001 | Crigler Najjar syndrome, type 2 | NA | BeFree | Detail | |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | Ten of these genes, have previously been identified as candidate AD liability ge... | BeFree | 26028559 | Detail |
| <0.001 | Cooley's anemia | NA | BeFree | Detail | |
| <0.001 | Aneurysm | NA | BeFree | Detail | |
| <0.001 | Anxiety Disorders | NA | BeFree | Detail | |
| 0.002 | asthma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Disease association analysis revealed that haplotype AGT influences CHD risk (OR 2.4, 95 % CI 1.23-4... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence musc... | DisGeNET | Detail |
| Furthermore, the AGT and GAC haplotypes were associated with a significantly higher prevalence of SS... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Among polymorphisms, only AGT M235T (P = 0.038) was associated with refractory hyperaldosteronism, a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by defi... | DisGeNET | Detail |
| The study may conclude that the D allele polymorphism in the ACE gene and the T allele polymorphism ... | DisGeNET | Detail |
| Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a deficiency of alanin... | DisGeNET | Detail |
| M235T polymorphism in the AGT gene and A/G(I8-83) substitution in the REN gene correlate with end-st... | 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 evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | 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 conferred by tagged SNPs of AGT gene in causing susceptibility to essential hypertension. | DisGeNET | Detail |
| ACE I/D, AGT M235T, and ADD Gly460Trp polymorphisms are thought to be associated with primary hypert... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We suggest that RAS gene polymorphisms (ACE-I/D, AGT M235T) are significantly associated with suscep... | 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 results showed that the distribution of AGT and REN polymorphisms were similar in patients with ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence musc... | 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 enrolled 109 consecutive patients with left ventricular systolic dysfunction [left ventricular ej... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by defi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of AGT and REN gene polymorphisms as susceptib... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| M235T polymorphism in the AGT gene and A/G(I8-83) substitution in the REN gene correlate with end-st... | DisGeNET | Detail |
| According to the analysis of the three strong positive SNPs, the haplotype of AGT increased signific... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ten of these genes, have previously been identified as candidate AD liability genes in genetic assoc... | 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
- rs4646994 dbSNP
- Genome
- hg38
- Position
- chr2:240,868,824-240,880,500
- Variant Type
- snv
Genome browser