Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042309696
rs1042309696
ACE
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Pharmacogenetic association of the NPPA T2238C genetic variant with cardiovascular disease outcomes in patients with hypertension. 18212314

2008

dbSNP: rs1042309696
rs1042309696
ACE
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE The NPPA T2238C variant was associated with modification of antihypertensive medication effects on cardiovascular disease and BP. 18212314

2008

dbSNP: rs1156835126
rs1156835126
ACE
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE We investigated a possible association between hypertension and haptoglobin, angiotensin I-converting enzyme (ACE), glutathione S-transferases GSTM1 and GSTT1, MnSOD (Val9Ala), CAT (-21A/T), and GPX1 (Pro198Leu) gene polymorphisms in an urban Brazilian population group from Brasília. 21053180

2010

dbSNP: rs1157043147
rs1157043147
ACE
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 GeneticVariation BEFREE Our results suggest that TGF-beta T869C (Leu 10Pro) gene polymorphism is associated with DMN in Chinese. 12675860

2003

dbSNP: rs1181835738
rs1181835738
ACE
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 GeneticVariation BEFREE Statistically significant associations with VTE were identified for factor V G1691A (OR 9.45; 95% CI 6.72-13.30, p < 0.0001), factor V A4070G (OR 1.24; 95% CI 1.02-1.52, p = 0.03), prothrombin G20210A, (OR 3.17; 95% CI 2.19-3.46, p < 0.00001), prothrombin G11991A, (OR 1.17; 95% CI 1.07-1.27, p = 0.0007), PAI-1 4G/5G, (OR 1.62; 95% CI 1.22-2.16, p = 0.0008), alpha-fibrinogen Thr312Ala (OR 1.37; 95% CI 1.14-1.64, p = 0.0008), all in Caucasian populations. 19652888

2009

dbSNP: rs1205538057
rs1205538057
ACE
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE G-containing genotypes (AG + GG) and G allele of AT2R in intron 1 (A1675G) were more frequent in SLE patients compared to controls ( p = 0.01, OR = 2.3, 95% CI = 1.2-4.5; p = 0.02, OR = 2.1, 95% CI = 1.2-3.7, respectively). 30621494

2019

dbSNP: rs1205538057
rs1205538057
ACE
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE A slight impact of AT2R 1675G/A polymorphism on CAD was found only in female diabetic patients. 22345093

2012

dbSNP: rs1205538057
rs1205538057
ACE
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE 1675G/A variant in the AT2R gene was found to be associated with CAD in female subjects with type 2 diabetes (p = 0.025). 22345093

2012

dbSNP: rs1205538057
rs1205538057
ACE
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE High renin-angiotensin system activity and the A-allele of the AT2R 1675G/A polymorphism associate with high risk of severe hypoglycemia in type 1 diabetes. 18328310

2008

dbSNP: rs121912703
rs121912703
ACE
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 GeneticVariation BEFREE Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation. 16958600

2006

dbSNP: rs1221928144
rs1221928144
ACE
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation BEFREE This is the first report showing that the S89N single-nucleotide polymorphism of the UTS2 gene is associated with essential hypertension. 16866021

2007

dbSNP: rs1241356540
rs1241356540
ACE
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144

2006

dbSNP: rs1241356540
rs1241356540
ACE
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE This study was designed to investigate whether V16A polymorphism of the manganese superoxide dismutase (Mn-SOD) gene is associated with the development of type 2 diabetes mellitus and with progression of diabetic retinopathy (DR) and diabetic macular edema (DME). 17142144

2006

dbSNP: rs1241356540
rs1241356540
ACE
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144

2006

dbSNP: rs1241356540
rs1241356540
ACE
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144

2006

dbSNP: rs1241356540
rs1241356540
ACE
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144

2006

dbSNP: rs1267969615
rs1267969615
ACE
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our findings suggest that the angiotensin-converting enzyme I/D and angiotensinogen M235T polymorphisms are unlikely to correlate with colorectal cancer. 31642377

2020

dbSNP: rs1267969615
rs1267969615
ACE
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Our findings suggest that the angiotensin-converting enzyme I/D and angiotensinogen M235T polymorphisms are unlikely to correlate with colorectal cancer. 31642377

2020

dbSNP: rs1267969615
rs1267969615
ACE
CUI: C0410158
Disease: Muscle damage
Muscle damage
0.010 GeneticVariation BEFREE Muscle damage was also determined fifteen days after race and angiotensinogen (<i>AGT</i>) Met235Thr, angiotensin-converting enzyme (<i>ACE</i>) I/D, and Bradykinin B2 receptor (<i>BDKRB2</i>) -9/+9 polymorphisms were determined. 31708962

2019

dbSNP: rs1267969615
rs1267969615
ACE
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 GeneticVariation BEFREE There was a significant difference in the insertion deletion genotype distribution between two groups (P = 0.03) and a higher percentage of the T allele M235T polymorphism in the group of STEAMI patients (P = 0.02). 29474203

2018

dbSNP: rs1267969615
rs1267969615
ACE
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 GeneticVariation BEFREE The aim of the study was to investigate the association between ACE (I/D) and AGT (M235T) gene polymorphisms and cardiovascular and metabolic disorders in the acromegaly. 28712073

2017

dbSNP: rs1267969615
rs1267969615
ACE
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.010 GeneticVariation BEFREE Also, 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM. 28120210

2017

dbSNP: rs1267969615
rs1267969615
ACE
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.010 GeneticVariation BEFREE Among polymorphisms, only AGT M235T (P = 0.038) was associated with refractory hyperaldosteronism, after adjustment for nongenetic variables. 25036270

2015

dbSNP: rs1267969615
rs1267969615
ACE
Left ventricular systolic dysfunction
0.010 GeneticVariation BEFREE We enrolled 109 consecutive patients with left ventricular systolic dysfunction [left ventricular ejection fraction (LVEF) 32 ± 10%; 86% males; age 65 ± 13 years (mean ± standard deviation)] on optimized adrenergic and renin-angiotensin-aldosterone system (RAAS) antagonism, undergoing clinical and neuroendocrine characterization, and genotyping for six polymorphisms in key RAAS-regulating genes [angiotensinogen (AGT M235T), angiotensin-converting enzyme (ACE-240A>T and I/D), angiotensin II type I receptor (AGTR1 1166A>C), aldosterone synthase (CYP11B2-344C>T) and renin (REN rs7539596)]. 25036270

2015

dbSNP: rs1267969615
rs1267969615
ACE
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.010 GeneticVariation BEFREE The allele frequency of AGT M235T differed significantly between group 1 (patients with simple renal cysts and hypertension) and normal individuals (p < 0.05). 23907112

2015