chr8:143991975:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:143,991,975-143,999,259
hg38 chr8:142,910,559-142,917,843 

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 Cardiomyopathy, Dilated NA BeFree Detail
0.010 hypertrophic cardiomyopathy We have shown for the first time that the CYP11B2 polymorphism is an independent... BeFree,GAD,LHGDN 24599807 Detail
0.005 Cardiovascular Diseases NA BeFree,GAD,LHGDN Detail
0.002 Cerebrovascular Disorders NA GAD Detail
0.002 Connective Tissue Diseases NA GAD Detail
0.003 Coronary Arteriosclerosis NA BeFree,GAD Detail
0.008 Coronary heart disease NA BeFree,GAD Detail
<0.001 Diabetes A multivariate logistic regression showed that age, gender, and CYP11B2 genotype... BeFree 24549414 Detail
<0.001 diabetes mellitus A multivariate logistic regression showed that age, gender, and CYP11B2 genotype... BeFree 24549414 Detail
0.005 Diabetes Mellitus, Non-Insulin-Dependent Genetic variant of the renin-angiotensin system and prevalence of type 2 diabete... BeFree,GAD 24549414 Detail
0.003 Diabetic Nephropathy NA BeFree,GAD Detail
<0.001 diarrhea NA BeFree Detail
<0.001 eclampsia NA BeFree Detail
0.003 Endocrine System Diseases NA BeFree,GAD Detail
<0.001 Failure to Thrive NA BeFree Detail
0.002 glaucoma NA GAD Detail
0.002 congenital heart defects NA GAD Detail
0.003 Cardiomegaly NA LHGDN Detail
0.009 Heart failure NA BeFree,GAD Detail
0.003 congestive heart failure Elevated cardiac aldosterone and upregulation of aldosterone synthase expression... BeFree 25014176 Detail
0.129 Hyperaldosteronism NA BeFree,CTD_human,GAD,LHGDN Detail
0.005 Hypercholesterolemia, Familial NA GAD Detail
0.002 pulmonary hypertension NA GAD Detail
0.003 renal hypertension NA BeFree,GAD Detail
0.122 Hypoaldosteronism NA BeFree,CTD_human Detail
0.005 Kidney Diseases NA GAD Detail
0.008 Kidney Failure, Chronic NA BeFree,GAD Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
0.012 essential hypertension Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... BeFree 12446468 Detail
<0.001 mitral valve insufficiency NA BeFree Detail
0.003 myocardial infarction NA BeFree,GAD Detail
0.002 nephrotic syndrome NA GAD Detail
<0.001 Nodule NA BeFree Detail
<0.001 periodontitis NA BeFree Detail
<0.001 Pituitary Diseases NA BeFree Detail
0.002 polycystic ovary syndrome NA GAD Detail
0.005 pre-eclampsia NA GAD,LHGDN Detail
0.005 pulmonary edema NA GAD,LHGDN Detail
<0.001 kidney failure NA BeFree Detail
0.002 Retinal Diseases NA GAD Detail
0.003 Cerebrovascular accident NA BeFree,GAD Detail
0.027 Left Ventricular Hypertrophy NA BeFree,GAD,LHGDN Detail
<0.001 hypertensive heart disease NA BeFree Detail
0.003 adrenal cortical adenoma NA BeFree,GAD Detail
<0.001 adrenocortical carcinoma NA BeFree Detail
<0.001 Liddle syndrome NA BeFree Detail
0.002 Fibrillation Relationship between CYP11B2-344T>C polymorphsim and atrial fibrillation: A meta... BeFree 25354523 Detail
<0.001 Dyslipidemias NA BeFree Detail
<0.001 Low-renin essential hypertension NA BeFree Detail
<0.001 Chronic heart failure NA BeFree Detail
0.080 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency NA BeFree,MGD Detail
0.240 Corticosterone Methyl Oxidase Type I Deficiency NA BeFree,CTD_human,UNIPROT Detail
0.002 Restenosis NA GAD Detail
<0.001 High altitude pulmonary edema NA BeFree Detail
<0.001 Hyperreninemic hypoaldosteronism NA BeFree Detail
<0.001 Adrenal hypertrophy or hyperplasia NA BeFree Detail
<0.001 Left ventricular dilatation NA BeFree Detail
0.003 Metabolic syndrome X NA BeFree,GAD Detail
<0.001 high renin hypertension NA BeFree Detail
<0.001 Malignant neoplasm of kidney NA BeFree Detail
0.002 Pregnancy associated hypertension NA GAD Detail
0.010 Cardiomyopathies NA BeFree,GAD Detail
0.002 aldosterone hypertension NA GAD Detail
<0.001 Vascular inflammations NA BeFree Detail
0.001 Ischemic stroke NA BeFree Detail
0.002 Acute coronary syndrome NA GAD Detail
0.005 Cardiomyopathy, Hypertrophic, Familial NA GAD Detail
<0.001 Heart Failure, Systolic NA BeFree Detail
<0.001 Chronic systolic heart failure NA BeFree Detail
0.125 glucocorticoid-remediable aldosteronism NA BeFree,ORPHANET Detail
0.009 Blood pressure finding NA GAD Detail
0.028 Systemic arterial pressure NA GAD Detail
<0.001 Left ventricular systolic dysfunction We enrolled 109 consecutive patients with left ventricular systolic dysfunction ... BeFree 25036270 Detail
<0.001 Deficiency of monooxygenase NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
0.009 Conn Syndrome Only a minority of the PA cases are familial and due to known (CYP11B2/CYP11B1 c... BeFree,GAD 25555247 Detail
<0.001 Cardiac fibrosis NA BeFree Detail
<0.001 Cardiomyopathy, Familial Idiopathic NA BeFree Detail
0.002 Creatinine finding NA GAD Detail
<0.001 Chronic Kidney Diseases NA BeFree Detail
<0.001 Renal Insufficiency NA BeFree Detail
<0.001 Adrenal hyperplasia NA BeFree Detail
0.120 Aldosterone to renin ratio, increased NA CLINVAR Detail
<0.001 coronary artery disease NA BeFree Detail
0.002 Aortic Stiffness NA GAD Detail
0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
0.120 Corticosterone methyl oxidase type II deficiency NA BeFree,UNIPROT Detail
<0.001 11-Beta-hydroxylase deficiency NA BeFree Detail
0.003 Familial hyperaldosteronism NA BeFree Detail
<0.001 acromegaly NA BeFree Detail
0.005 adenoma In KCNJ5 mutated APA, CYP11B2 mRNA (P <0.0001) and HSD3B1 mRNA (P = 0.011) were ... BeFree 25458695 Detail
0.005 adenoma A subset of adenomas was found to contain a high density of intratumoral mast ce... BeFree 25599386 Detail
0.002 Tumors of Adrenal Cortex NA GAD Detail
<0.001 adrenal gland hyperfunction NA BeFree Detail
<0.001 Adrenal Gland Neoplasms NA BeFree Detail
0.001 congenital adrenal hyperplasia NA BeFree Detail
0.002 Altitude Sickness NA GAD Detail
0.002 Alzheimer's disease NA GAD Detail
<0.001 aortic valve stenosis NA BeFree Detail
0.002 rheumatoid arthritis NA GAD Detail
0.007 atherosclerosis NA BeFree,GAD Detail
0.005 atrial fibrillation NA GAD Detail
0.005 Malignant neoplasm of breast NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
We have shown for the first time that the CYP11B2 polymorphism is an independent predictor for AF de... DisGeNET Detail
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A multivariate logistic regression showed that age, gender, and CYP11B2 genotype were independent fa... DisGeNET Detail
A multivariate logistic regression showed that age, gender, and CYP11B2 genotype were independent fa... DisGeNET Detail
Genetic variant of the renin-angiotensin system and prevalence of type 2 diabetes mellitus: a modest... DisGeNET Detail
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Elevated cardiac aldosterone and upregulation of aldosterone synthase expression were detected in ra... DisGeNET Detail
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Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... DisGeNET Detail
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Relationship between CYP11B2-344T>C polymorphsim and atrial fibrillation: A meta-analysis. DisGeNET Detail
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We enrolled 109 consecutive patients with left ventricular systolic dysfunction [left ventricular ej... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Only a minority of the PA cases are familial and due to known (CYP11B2/CYP11B1 chimeric gene or muta... DisGeNET Detail
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In KCNJ5 mutated APA, CYP11B2 mRNA (P <0.0001) and HSD3B1 mRNA (P = 0.011) were significantly higher... DisGeNET Detail
A subset of adenomas was found to contain a high density of intratumoral mast cells, which was corre... DisGeNET Detail
NA DisGeNET Detail
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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
rs386511346 dbSNP
Genome
hg19
Position
chr8:143,991,975-143,999,259
Variant Type
snv
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