AGTR1, angiotensin II receptor type 1, 185

N. diseases: 440; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893677
rs104893677
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
0.800 GeneticVariation UNIPROT Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 16116425 2005
dbSNP: rs104893677
rs104893677
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs12695894
rs12695894
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs12695894
rs12695894
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs12721235
rs12721235
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs12721235
rs12721235
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs12721235
rs12721235
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs12721235
rs12721235
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1826361
rs1826361
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1826361
rs1826361
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5185
rs5185
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5185
rs5185
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5185
rs5185
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5185
rs5185
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs12695894
rs12695894
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs387906577
rs387906577
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
AT 0.700 CausalMutation CLINVAR
dbSNP: rs397514687
rs397514687
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0020538
Disease:
Hypertensive disease
0.060 GeneticVariation BEFREE We did not observe associations between hypertension and rs1799752 (<i>P</i>=0.422), rs699 (<i>P</i>=0.36), rs5186 (<i>P</i>=0.49), and rs1799998 (<i>P</i>=0.71). 31511791 2019
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0020538
Disease:
Hypertensive disease
0.060 GeneticVariation BEFREE Angiotensin II Type 1 Receptor rs5186 Gene Variant Predicts Incident NAFLD and Associated Hypertension: Role of Dietary Fat-Induced Pro-Inflammatory Cell Activation. 30920415 2019
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0020538
Disease:
Hypertensive disease
0.060 GeneticVariation BEFREE An association was found between rs5186, rs699, and hypertension under allele contrast and homozygous codominant models (odds ratio, 1.63 [95% confidence interval, 1.04-2.54] and 4.01 [95% confidence interval, 1.17-13.80] for rs5186, respectively; and 1.80 [95% confidence interval, 1.13-2.87] for rs699). 29520984 2018
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0020538
Disease:
Hypertensive disease
0.060 GeneticVariation BEFREE This study examined the SNPs AGT rs699 (Met235Thr), ADD1 rs4961 (Gly460Trp), NPPA rs5063 (Val32Met), GPX1 rs1050450 (Pro198Leu), and AGTR1 rs5186 (A1166C) in relation to hypertension and salt sensitivity. 27480094 2017
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0020538
Disease:
Hypertensive disease
0.060 GeneticVariation BEFREE A polymorphism in the angiotensin II type 1 receptor gene (AGTR1/rs5186) has been associated with an increased risk for arterial stiffness, hypertension, and ischemic stroke. 24981111 2014
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0020538
Disease:
Hypertensive disease
0.060 GeneticVariation BEFREE We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for components of G protein signaling pathways that have been associated with hypertension differ between women with preeclampsia and normotensive pregnant women; the G protein β3 subunit gene (GNB3) C825T polymorphism (rs5443), the angiotensin II type 1 receptor gene (AGTR1) 3'UTR A1166C polymorphism (rs5186), and the regulator of G protein signaling 2 gene (RGS2) 3'UTR C1114G polymorphism (rs4606). 23339167 2013
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.030 GeneticVariation BEFREE The gain-of-function rs5186 A1166C variant in angtiotensin receptor type 1 (AGTR1) gene has been linked to hypertension, cardiovascular disease and metabolic syndrome. 30920415 2019
dbSNP: rs5186
rs5186
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.030 GeneticVariation BEFREE The C allele in rs5186 in AGTR1 was associated with higher rates of death and major cardiovascular events in a meta-analysis of EA and AfAn patients with end-stage kidney disease.SNPs in ACE were associated with SCD. 29982608 2019