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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs5186

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr3:148742201 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.22748 (56561/248638, GnomAD_exome)
C=0.21035 (26413/125568, TOPMED)
C=0.22291 (26444/118630, ExAC) (+ 9 more)
C=0.1489 (11719/78702, PAGE_STUDY)
C=0.1965 (6162/31356, GnomAD)
C=0.221 (1270/5734, GO-ESP)
C=0.118 (590/5008, 1000G)
C=0.238 (1065/4480, Estonian)
C=0.303 (1167/3854, ALSPAC)
C=0.299 (1108/3708, TWINSUK)
C=0.06 (38/613, Vietnamese)
C=0.25 (152/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
AGTR1 : 3 Prime UTR Variant
Publications
128 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 3 NC_000003.12:g.148742201A>C
GRCh37.p13 chr 3 NC_000003.11:g.148459988A>C
AGTR1 RefSeqGene NG_008468.1:g.49331A>C
Gene: AGTR1, angiotensin II receptor type 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AGTR1 transcript variant 2 NM_009585.3:c. N/A 3 Prime UTR Variant
AGTR1 transcript variant 1 NM_000685.4:c. N/A 3 Prime UTR Variant
AGTR1 transcript variant 3 NM_004835.4:c. N/A 3 Prime UTR Variant
AGTR1 transcript variant 4 NM_031850.3:c. N/A 3 Prime UTR Variant
AGTR1 transcript variant 5 NM_032049.3:c. N/A 3 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 33104 )
ClinVar Accession Disease Names Clinical Significance
RCV000019688.5 Hypertension, essential, susceptibility to Risk-Factor
RCV000374969.1 Renal dysplasia Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 248638 A=0.77252 C=0.22748
gnomAD - Exomes European Sub 134130 A=0.72462 C=0.27538
gnomAD - Exomes Asian Sub 48798 A=0.9228 C=0.0772
gnomAD - Exomes American Sub 34494 A=0.7004 C=0.2996
gnomAD - Exomes African Sub 15130 A=0.9422 C=0.0578
gnomAD - Exomes Ashkenazi Jewish Sub 10040 A=0.6924 C=0.3076
gnomAD - Exomes Other Sub 6046 A=0.742 C=0.258
TopMed Global Study-wide 125568 A=0.78965 C=0.21035
ExAC Global Study-wide 118630 A=0.77709 C=0.22291
ExAC Europe Sub 71916 A=0.7185 C=0.2815
ExAC Asian Sub 25084 A=0.9202 C=0.0798
ExAC American Sub 11488 A=0.6984 C=0.3016
ExAC African Sub 9248 A=0.939 C=0.061
ExAC Other Sub 894 A=0.81 C=0.19
The PAGE Study Global Study-wide 78702 A=0.8511 C=0.1489
The PAGE Study AfricanAmerican Sub 32516 A=0.9290 C=0.0710
The PAGE Study Mexican Sub 10810 A=0.7071 C=0.2929
The PAGE Study Asian Sub 8318 A=0.908 C=0.092
The PAGE Study PuertoRican Sub 7918 A=0.771 C=0.229
The PAGE Study NativeHawaiian Sub 4534 A=0.878 C=0.122
The PAGE Study Cuban Sub 4230 A=0.754 C=0.246
The PAGE Study Dominican Sub 3828 A=0.829 C=0.171
The PAGE Study CentralAmerican Sub 2450 A=0.777 C=0.223
The PAGE Study SouthAmerican Sub 1982 A=0.754 C=0.246
The PAGE Study NativeAmerican Sub 1260 A=0.754 C=0.246
The PAGE Study SouthAsian Sub 856 A=0.91 C=0.09
gnomAD - Genomes Global Study-wide 31356 A=0.8035 C=0.1965
gnomAD - Genomes European Sub 18868 A=0.7357 C=0.2643
gnomAD - Genomes African Sub 8706 A=0.941 C=0.059
gnomAD - Genomes East Asian Sub 1558 A=0.942 C=0.058
gnomAD - Genomes Other Sub 1086 A=0.780 C=0.220
gnomAD - Genomes American Sub 848 A=0.71 C=0.29
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.71 C=0.29
GO Exome Sequencing Project Global Study-wide 5734 A=0.779 C=0.221
GO Exome Sequencing Project European American Sub 3982 A=0.709 C=0.291
GO Exome Sequencing Project African American Sub 1752 A=0.936 C=0.064
1000Genomes Global Study-wide 5008 A=0.882 C=0.118
1000Genomes African Sub 1322 A=0.980 C=0.020
1000Genomes East Asian Sub 1008 A=0.940 C=0.060
1000Genomes Europe Sub 1006 A=0.728 C=0.272
1000Genomes South Asian Sub 978 A=0.93 C=0.07
1000Genomes American Sub 694 A=0.77 C=0.23
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.762 C=0.238
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.697 C=0.303
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.701 C=0.299
A Vietnamese Genetic Variation Database Global Study-wide 613 A=0.94 C=0.06
Northern Sweden ACPOP Study-wide 600 A=0.75 C=0.25
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C Note
GRCh38.p12 chr 3 NC_000003.12:g.148742201= NC_000003.12:g.14874220...

NC_000003.12:g.148742201A>C

GRCh37.p13 chr 3 NC_000003.11:g.148459988= NC_000003.11:g.14845998...

NC_000003.11:g.148459988A>C

AGTR1 RefSeqGene NG_008468.1:g.49331= NG_008468.1:g.49331A>C
AGTR1 transcript variant 1 NM_000685.4:c.*86= NM_000685.4:c.*86A>C
AGTR1 transcript variant 3 NM_004835.4:c.*86= NM_004835.4:c.*86A>C
AGTR1 transcript variant 4 NM_031850.3:c.*86= NM_031850.3:c.*86A>C
AGTR1 transcript variant 2 NM_009585.3:c.*86= NM_009585.3:c.*86A>C
AGTR1 transcript variant 5 NM_032049.3:c.*86= NM_032049.3:c.*86A>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

119 SubSNP, 12 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ARAVINDA ss6632 Sep 19, 2000 (52)
2 LEE ss1527366 Oct 04, 2000 (86)
3 LEE ss1553174 Oct 04, 2000 (86)
4 TSC-CSHL ss3269499 Sep 28, 2001 (100)
5 SC_JCM ss3776177 Sep 28, 2001 (100)
6 LEE ss4417479 May 29, 2002 (106)
7 YUSUKE ss4918554 Aug 28, 2002 (108)
8 IMCJ-GDT ss22886640 Apr 05, 2004 (121)
9 PARC ss23142968 Sep 20, 2004 (126)
10 ABI ss44469395 Mar 10, 2006 (126)
11 RIKENSNPRC ss49849457 Mar 10, 2006 (126)
12 CGM_KYOTO ss76864680 Dec 06, 2007 (129)
13 HGSV ss77774725 Dec 06, 2007 (129)
14 PHARMGKB_PARC ss84147758 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss92320886 Mar 24, 2008 (129)
16 CNG ss95212906 Mar 25, 2008 (129)
17 HUMANGENOME_JCVI ss96062165 Feb 05, 2009 (130)
18 OMIM-CURATED-RECORDS ss102664368 Jun 09, 2008 (130)
19 ENSEMBL ss135472266 Dec 01, 2009 (131)
20 ENSEMBL ss139218581 Dec 01, 2009 (131)
21 ILLUMINA ss154336549 Dec 01, 2009 (131)
22 ILLUMINA ss159513133 Dec 01, 2009 (131)
23 ILLUMINA ss160739029 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss162709885 Jul 04, 2010 (132)
25 ILLUMINA ss173911562 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss206057250 Jul 04, 2010 (132)
27 1000GENOMES ss232079495 Jul 14, 2010 (132)
28 1000GENOMES ss239440439 Jul 15, 2010 (132)
29 ILLUMINA ss244302861 Jul 04, 2010 (132)
30 BL ss253587223 May 09, 2011 (134)
31 GMI ss277395811 May 04, 2012 (137)
32 PJP ss292944711 May 09, 2011 (134)
33 PAGE_STUDY ss469996378 May 04, 2012 (137)
34 ILLUMINA ss479321644 May 04, 2012 (137)
35 ILLUMINA ss481135347 May 04, 2012 (137)
36 ILLUMINA ss481157492 May 04, 2012 (137)
37 ILLUMINA ss482146853 Sep 08, 2015 (146)
38 ILLUMINA ss484481997 May 04, 2012 (137)
39 ILLUMINA ss485362743 May 04, 2012 (137)
40 CLINSEQ_SNP ss491843818 May 04, 2012 (137)
41 ILLUMINA ss537306583 Sep 08, 2015 (146)
42 TISHKOFF ss557019345 Apr 25, 2013 (138)
43 SSMP ss650751019 Apr 25, 2013 (138)
44 NHLBI-ESP ss712553625 Apr 25, 2013 (138)
45 ILLUMINA ss778556688 Aug 21, 2014 (142)
46 ILLUMINA ss779565015 Aug 21, 2014 (142)
47 ILLUMINA ss780952477 Aug 21, 2014 (142)
48 ILLUMINA ss783127048 Aug 21, 2014 (142)
49 ILLUMINA ss784083636 Aug 21, 2014 (142)
50 ILLUMINA ss832385902 Apr 01, 2015 (144)
51 ILLUMINA ss833024437 Aug 21, 2014 (142)
52 ILLUMINA ss833615265 Aug 21, 2014 (142)
53 ILLUMINA ss834013498 Aug 21, 2014 (142)
54 ILLUMINA ss835036227 Aug 21, 2014 (142)
55 JMKIDD_LAB ss974450301 Aug 21, 2014 (142)
56 EVA-GONL ss979287665 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067456085 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1070927081 Aug 21, 2014 (142)
59 1000GENOMES ss1306646924 Aug 21, 2014 (142)
60 HAMMER_LAB ss1397355091 Sep 08, 2015 (146)
61 DDI ss1429624511 Apr 01, 2015 (144)
62 OMIM-CURATED-RECORDS ss1505810988 Dec 08, 2014 (142)
63 EVA_GENOME_DK ss1580231020 Apr 01, 2015 (144)
64 EVA_FINRISK ss1584031000 Apr 01, 2015 (144)
65 EVA_DECODE ss1588778674 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1608470880 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1651464913 Apr 01, 2015 (144)
68 EVA_EXAC ss1687250712 Apr 01, 2015 (144)
69 EVA_MGP ss1711037700 Apr 01, 2015 (144)
70 ILLUMINA ss1752445782 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1922511292 Feb 12, 2016 (147)
72 ILLUMINA ss1958616834 Feb 12, 2016 (147)
73 GENOMED ss1969550904 Jul 19, 2016 (147)
74 JJLAB ss2021826619 Sep 14, 2016 (149)
75 ILLUMINA ss2094813643 Dec 20, 2016 (150)
76 ILLUMINA ss2095138638 Dec 20, 2016 (150)
77 USC_VALOUEV ss2149922979 Dec 20, 2016 (150)
78 HUMAN_LONGEVITY ss2256845939 Dec 20, 2016 (150)
79 TOPMED ss2424225844 Dec 20, 2016 (150)
80 ILLUMINA ss2634026428 Nov 08, 2017 (151)
81 ILLUMINA ss2634026429 Nov 08, 2017 (151)
82 GRF ss2705336521 Nov 08, 2017 (151)
83 GNOMAD ss2734133033 Nov 08, 2017 (151)
84 GNOMAD ss2747119780 Nov 08, 2017 (151)
85 GNOMAD ss2800525940 Nov 08, 2017 (151)
86 AFFY ss2985273172 Nov 08, 2017 (151)
87 AFFY ss2985897638 Nov 08, 2017 (151)
88 SWEGEN ss2993391151 Nov 08, 2017 (151)
89 ILLUMINA ss3022299000 Nov 08, 2017 (151)
90 BIOINF_KMB_FNS_UNIBA ss3024681021 Nov 08, 2017 (151)
91 CSHL ss3345322373 Nov 08, 2017 (151)
92 TOPMED ss3408733881 Nov 08, 2017 (151)
93 ILLUMINA ss3628802765 Oct 12, 2018 (152)
94 ILLUMINA ss3631968486 Oct 12, 2018 (152)
95 ILLUMINA ss3631968487 Oct 12, 2018 (152)
96 ILLUMINA ss3633312584 Oct 12, 2018 (152)
97 ILLUMINA ss3634030478 Oct 12, 2018 (152)
98 ILLUMINA ss3634922462 Oct 12, 2018 (152)
99 ILLUMINA ss3635713962 Oct 12, 2018 (152)
100 ILLUMINA ss3636619864 Oct 12, 2018 (152)
101 ILLUMINA ss3637466389 Oct 12, 2018 (152)
102 ILLUMINA ss3638448504 Oct 12, 2018 (152)
103 ILLUMINA ss3640629760 Oct 12, 2018 (152)
104 ILLUMINA ss3642288846 Oct 12, 2018 (152)
105 OMUKHERJEE_ADBS ss3646294451 Oct 12, 2018 (152)
106 URBANLAB ss3647553128 Oct 12, 2018 (152)
107 ILLUMINA ss3652778572 Oct 12, 2018 (152)
108 ILLUMINA ss3652778573 Oct 12, 2018 (152)
109 ILLUMINA ss3654042678 Oct 12, 2018 (152)
110 EGCUT_WGS ss3661322270 Jul 13, 2019 (153)
111 PATHPUNJABI ss3685990256 Jul 13, 2019 (153)
112 EVA_DECODE ss3710525316 Jul 13, 2019 (153)
113 ILLUMINA ss3726068271 Jul 13, 2019 (153)
114 ACPOP ss3730456025 Jul 13, 2019 (153)
115 ILLUMINA ss3745222437 Jul 13, 2019 (153)
116 EVA ss3760841973 Jul 13, 2019 (153)
117 PAGE_CC ss3771072904 Jul 13, 2019 (153)
118 ILLUMINA ss3772717624 Jul 13, 2019 (153)
119 KHV_HUMAN_GENOMES ss3803976154 Jul 13, 2019 (153)
120 1000Genomes NC_000003.11 - 148459988 Oct 12, 2018 (152)
121 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 148459988 Oct 12, 2018 (152)
122 Genetic variation in the Estonian population NC_000003.11 - 148459988 Oct 12, 2018 (152)
123 ExAC NC_000003.11 - 148459988 Oct 12, 2018 (152)
124 gnomAD - Genomes NC_000003.11 - 148459988 Jul 13, 2019 (153)
125 gnomAD - Exomes NC_000003.11 - 148459988 Jul 13, 2019 (153)
126 GO Exome Sequencing Project NC_000003.11 - 148459988 Oct 12, 2018 (152)
127 Northern Sweden NC_000003.11 - 148459988 Jul 13, 2019 (153)
128 The PAGE Study NC_000003.12 - 148742201 Jul 13, 2019 (153)
129 TopMed NC_000003.12 - 148742201 Oct 12, 2018 (152)
130 UK 10K study - Twins NC_000003.11 - 148459988 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000003.11 - 148459988 Jul 13, 2019 (153)
132 ClinVar RCV000019688.5 Oct 12, 2018 (152)
133 ClinVar RCV000374969.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3192044 Jul 03, 2002 (106)
rs3732563 Oct 08, 2002 (108)
rs17231380 Mar 10, 2006 (126)
rs59796105 May 25, 2008 (130)
rs386597902 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77774725 NC_000003.9:149942685:A:C NC_000003.12:148742200:A:C (self)
ss92320886, ss160739029, ss162709885, ss206057250, ss244302861, ss253587223, ss277395811, ss292944711, ss481135347, ss484481997, ss491843818, ss1397355091, ss1588778674 NC_000003.10:149942677:A:C NC_000003.12:148742200:A:C (self)
17927738, 9984239, 7060518, 7193557, 49043607, 3222879, 423720, 3740890, 9984239, 2177783, ss232079495, ss239440439, ss479321644, ss481157492, ss482146853, ss485362743, ss537306583, ss557019345, ss650751019, ss712553625, ss778556688, ss779565015, ss780952477, ss783127048, ss784083636, ss832385902, ss833024437, ss833615265, ss834013498, ss835036227, ss974450301, ss979287665, ss1067456085, ss1070927081, ss1306646924, ss1429624511, ss1580231020, ss1584031000, ss1608470880, ss1651464913, ss1687250712, ss1711037700, ss1752445782, ss1922511292, ss1958616834, ss1969550904, ss2021826619, ss2094813643, ss2095138638, ss2149922979, ss2424225844, ss2634026428, ss2634026429, ss2705336521, ss2734133033, ss2747119780, ss2800525940, ss2985273172, ss2985897638, ss2993391151, ss3022299000, ss3345322373, ss3628802765, ss3631968486, ss3631968487, ss3633312584, ss3634030478, ss3634922462, ss3635713962, ss3636619864, ss3637466389, ss3638448504, ss3640629760, ss3642288846, ss3646294451, ss3652778572, ss3652778573, ss3654042678, ss3661322270, ss3730456025, ss3745222437, ss3760841973, ss3772717624 NC_000003.11:148459987:A:C NC_000003.12:148742200:A:C (self)
RCV000019688.5, RCV000374969.1, 294373, 265783465, ss1505810988, ss2256845939, ss3024681021, ss3408733881, ss3647553128, ss3685990256, ss3710525316, ss3726068271, ss3771072904, ss3803976154 NC_000003.12:148742200:A:C NC_000003.12:148742200:A:C (self)
ss6632, ss1527366, ss1553174, ss3269499, ss3776177, ss4417479, ss4918554, ss22886640, ss23142968, ss44469395, ss49849457, ss76864680, ss84147758, ss95212906, ss96062165, ss102664368, ss135472266, ss139218581, ss154336549, ss159513133, ss173911562, ss469996378 NT_005612.16:54955133:A:C NC_000003.12:148742200:A:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

128 citations for rs5186
PMID Title Author Year Journal
8021009 Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Bonnardeaux A et al. 1994 Hypertension (Dallas, Tex.
9084931 Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension. Wang WY et al. 1997 Clinical genetics
15042429 A1166C variant of angiotensin II type 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen gene. Kobashi G et al. 2004 Journal of human genetics
16175505 Identification of four gene variants associated with myocardial infarction. Shiffman D et al. 2005 American journal of human genetics
17173513 No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 m. Koehle MS et al. 2006 High altitude medicine & biology
17207964 Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels. Asselbergs FW et al. 2007 Genomics
17211857 Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits. Abdollahi MR et al. 2007 Human mutation
17588946 The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microRNA-155 binding. Martin MM et al. 2007 The Journal of biological chemistry
17668390 Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Sethupathy P et al. 2007 American journal of human genetics
18069999 Renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms are not associated with the risk of incident type 2 diabetes mellitus: a prospective cohort study. Conen D et al. 2008 Journal of internal medicine
18224312 Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Brockmöller J et al. 2008 European journal of clinical pharmacology
18279468 Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure. Zakrzewski-Jakubiak M et al. 2008 British journal of clinical pharmacology
18413494 Hereditary determinants of human hypertension: strategies in the setting of genetic complexity. Shih PA et al. 2008 Hypertension (Dallas, Tex.
18513389 New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. Penco S et al. 2008 BMC bioinformatics
18637188 RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population. Freitas AI et al. 2008 BMC cardiovascular disorders
18641512 Angiotensin II type 1 receptor polymorphisms and susceptibility to hypertension: a HuGE review. Mottl AK et al. 2008 Genetics in medicine
18698212 Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study. Conen D et al. 2008 Journal of hypertension
18953568 Male-female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population. Schoenhard JA et al. 2008 Human genetics
19131662 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Wang X et al. 2009 Stroke
19263529 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Zee RY et al. 2009 Clinica chimica acta; international journal of clinical chemistry
19274051 Angiotensin receptor gene polymorphisms and 2-year change in hyperintense lesion volume in men. Taylor WD et al. 2010 Molecular psychiatry
19290790 MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine. Mishra PJ et al. 2009 Pharmacogenomics
19330901 Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. Conen D et al. 2009 Journal of hypertension
19330904 Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure. Wu CK et al. 2009 Journal of hypertension
19336370 Determination of genetic predisposition to patent ductus arteriosus in preterm infants. Dagle JM et al. 2009 Pediatrics
19371411 dbSMR: a novel resource of genome-wide SNPs affecting microRNA mediated regulation. Hariharan M et al. 2009 BMC bioinformatics
19379518 Development of a fingerprinting panel using medically relevant polymorphisms. Cross DS et al. 2009 BMC medical genomics
19559392 A candidate gene association study of 77 polymorphisms in migraine. Schürks M et al. 2009 The journal of pain
19587357 A systematic meta-analysis of genetic association studies for diabetic retinopathy. Abhary S et al. 2009 Diabetes
19619703 Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study. Goulart AC et al. 2009 American heart journal
19716087 Genetic variation in angiotensin-converting enzyme-related pathways associated with sudden cardiac arrest risk. Sotoodehnia N et al. 2009 Heart rhythm
19898265 PharmGKB summary: very important pharmacogene information for angiotensin-converting enzyme. Thorn CF et al. 2010 Pharmacogenetics and genomics
19954723 The A1166C polymorphism of angiotensin II Type 1 receptor as a predictor of renal function decline over 4 years follow-up in an apparently healthy Chinese population. Lee YT et al. 2009 Clinical nephrology
20308035 Common genetic variation, residential proximity to traffic exposure, and left ventricular mass: the multi-ethnic study of atherosclerosis. Van Hee VC et al. 2010 Environmental health perspectives
20428464 MicroRNA polymorphisms: a giant leap towards personalized medicine. Mishra PJ et al. 2009 Personalized medicine
20486282 Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure. Gu D et al. 2010 Journal of hypertension
20521218 Progress toward genetic tailoring of heart failure therapy. Lillvis JH et al. 2010 Current opinion in molecular therapeutics
20565774 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cross DS et al. 2010 BMC genetics
20570668 Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau. Buroker NE et al. 2010 Clinica chimica acta; international journal of clinical chemistry
20577119 Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study. Irvin MR et al. 2010 Journal of hypertension
20592051 Interactions among related genes of renin-angiotensin system associated with type 2 diabetes. Yang JK et al. 2010 Diabetes care
20621252 The genetics of vascular complications in diabetes mellitus. Farbstein D et al. 2010 Cardiology clinics
20732682 A1166C genetic variation of the angiotensin II type I receptor gene and susceptibility to coronary heart disease: collaborative of 53 studies with 20,435 cases and 23,674 controls. Xu M et al. 2010 Atherosclerosis
20809528 MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets. Barenboim M et al. 2010 Human mutation
20810793 Endothelial nitric oxide synthase gene variation associated with chronic kidney disease after liver transplant. Bambha K et al. 2010 Mayo Clinic proceedings
20811292 Genetic variants in the renin-angiotensin system and blood pressure reactions to the cold pressor test. Wang L et al. 2010 Journal of hypertension
20856803 Cardiovascular risk associated with interactions among polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems. Bentley JP et al. 2010 PloS one
20864943 Early inflammatory and metabolic changes in association with AGTR1 polymorphisms in prehypertensive subjects. Fung MM et al. 2011 American journal of hypertension
20948563 Cardiovascular Disease, Single Nucleotide Polymorphisms; and the Renin Angiotensin System: Is There a MicroRNA Connection? Elton TS et al. 2010 International journal of hypertension
20981351 Promoter Polymorphism of RGS2 Gene Is Associated with Change of Blood Pressure in Subjects with Antihypertensive Treatment: The Azelnidipine and Temocapril in Hypertensive Patients with Type 2 Diabetes Study. Sugimoto K et al. 2010 International journal of hypertension
21058046 Genetics of salt-sensitive hypertension. Sanada H et al. 2011 Current hypertension reports
21127830 Genetic associations in diabetic nephropathy: a meta-analysis. Mooyaart AL et al. 2011 Diabetologia
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21304999 Epistatic interactions in genetic regulation of t-PA and PAI-1 levels in a Ghanaian population. Penrod NM et al. 2011 PloS one
21316998 A polymorphism in the angiotensin II type 1 receptor gene has different effects on the risk of diabetic nephropathy in men and women. Möllsten A et al. 2011 Molecular genetics and metabolism
21346624 Interactive effect of angiotensin II type 1 receptor (AGT1R) polymorphisms and plasma irbesartan concentration on antihypertensive therapeutic responses to irbesartan. Jiang S et al. 2011 Journal of hypertension
21395978 MicroRNAs and cardiovascular diseases. Ono K et al. 2011 The FEBS journal
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21576655 Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Mital S et al. 2011 Circulation
21671168 Association of polymorphisms in angiotensin II receptor genes with aldosterone-producing adenoma. Ouyang J et al. 2011 Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban
21771600 A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Kelly M et al. 2011 Journal of molecular and cellular cardiology
21799445 Genetic variants in the renin-angiotensin-aldosterone system and blood pressure responses to potassium intake. He J et al. 2011 Journal of hypertension
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
21995669 A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS. Richardson K et al. 2011 BMC genomics
22024213 A novel gene-environment interaction involved in endometriosis. McCarty CA et al. 2012 International journal of gynaecology and obstetrics
22348086 miRNA-mediated relationships between Cis-SNP genotypes and transcript intensities in lymphocyte cell lines. Zhang W et al. 2012 PloS one
22400124 Genomic research to identify novel pathways in the development of abdominal aortic aneurysm. Harrison SC et al. 2012 Cardiology research and practice
22433249 Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction. Jiménez-Sousa MA et al. 2012 Cytokine
22569109 The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy. Kolder IC et al. 2012 European journal of human genetics
22645060 Association study of angiotensin II type 1 receptor: A1166C (rs5186) polymorphism with coronary heart disease using systematic meta-analysis. Zhang K et al. 2013 Journal of the renin-angiotensin-aldosterone system
22664914 MicroRNA-mediated regulation of gene expression is affected by disease-associated SNPs within the 3'-UTR via altered RNA structure. Haas U et al. 2012 RNA biology
22879966 Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. Verschuren JJ et al. 2012 PloS one
23081748 ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Indian patients with type 2 diabetes. Shah VN et al. 2013 Molecular and cellular biochemistry
23132613 Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis. Staines-Urias E et al. 2012 International journal of epidemiology
23173617 MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs. Liu C et al. 2012 BMC genomics
23339167 Single nucleotide polymorphisms in G protein signaling pathway genes in preeclampsia. Kvehaugen AS et al. 2013 Hypertension (Dallas, Tex.
23437094 Genetic susceptibility to non-necrotizing erysipelas/cellulitis. Hannula-Jouppi K et al. 2013 PloS one
23902432 Lack of association of angiotensin II type 1 receptor A1166C gene polymorphism with the risk of end-stage renal disease. Mao S et al. 2013 Renal failure
24127120 Genetic susceptibility to nosocomial pneumonia, acute respiratory distress syndrome and poor outcome in patients at risk of critical illness. Salnikova LE et al. 2014 Inflammation
24452035 ACE insertion/deletion polymorphism (rs1799752) modifies the renoprotective effect of renin-angiotensin system blockade in patients with IgA nephropathy. Teranishi J et al. 2015 Journal of the renin-angiotensin-aldosterone system
24629096 mrSNP: software to detect SNP effects on microRNA binding. Deveci M et al. 2014 BMC bioinformatics
24722536 Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients. Jia EZ et al. 2014 Scientific reports
24801553 Analysis of multiple genetic polymorphisms in aggressive-growing and slow-growing abdominal aortic aneurysms. Duellman T et al. 2014 Journal of vascular surgery
24834361 Update on abdominal aortic aneurysm research: from clinical to genetic studies. Kuivaniemi H et al. 2014 Scientifica
24981111 Impact of the AGTR1 A1166C polymorphism on subcortical hyperintensities and cognition in healthy older adults. Salminen LE et al. 2014 Age (Dordrecht, Netherlands)
24991086 Novel insights into miRNA in lung and heart inflammatory diseases. Kishore A et al. 2014 Mediators of inflammation
25020710
25106527 Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites. Wu D et al. 2014 BMC genomics
25474356 Highly significant association between two common single nucleotide polymorphisms in CORIN gene and preeclampsia in Caucasian women. Stepanian A et al. 2014 PloS one
25512783 Association of genetic variants with diabetic nephropathy. Rizvi S et al. 2014 World journal of diabetes
25788903 Network-based analysis of the sphingolipid metabolism in hypertension. Fenger M et al. 2015 Frontiers in genetics
26142106 Epistatic interaction between common AGT G(-6)A (rs5051) and AGTR1 A1166C (rs5186) variants contributes to variation in kidney size at birth. Kaczmarczyk M et al. 2015 Gene
26283679 Correlation between renin-angiotensin system gene polymorphisms and essential hypertension in the Chinese Yi ethnic group. Yang YL et al. 2015 Journal of the renin-angiotensin-aldosterone system
26335431 Altered erythrocyte membrane protein composition mirrors pleiotropic effects of hypertension susceptibility genes and disease pathogenesis. Polonikov AV et al. 2015 Journal of hypertension
26395033 Angiotensin II type 1 receptor A1166 C (rs5186) gene polymorphism increased risk and severity of psoriasis, contribution to oxidative stress, antioxidant statues, lipid peroxidation and correlation with vascular adhesion protein 1, preliminary report. Mohammadi Y et al. 2016 Journal of the European Academy of Dermatology and Venereology
26509357 Genetic variants in the renin-angiotensin system predict response to bevacizumab in cancer patients. Moreno-Muñoz D et al. 2015 European journal of clinical investigation
26588355 Lack of Association Between Polymorphisms in AGT and ATR1 and IgA Nephropathy in a Chinese Population. Gao J et al. 2015 Genetic testing and molecular biomarkers
26615960 Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants. Kawase K et al. 2016 Pediatrics international
26667052 The prevalence of unique SNPs in the renin-angiotensin system highlights the need for pharmacogenetics in Indigenous Australians. Grimson S et al. 2016 Clinical and experimental pharmacology & physiology
27068935 Renin-angiotensin system gene polymorphisms and endometrial cancer. Pringle KG et al. 2016 Endocrine connections
27240348 Association of Genetic Polymorphisms of Renin-Angiotensin-Aldosterone System-Related Genes with Arterio-Venous Fistula Malfunction in Hemodialysis Patients. Chen YW et al. 2016 International journal of molecular sciences
27277665 Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. Zholdybayeva EV et al. 2016 Human genomics
27480094 Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers. Imaizumi T et al. 2017 Clinical and experimental nephrology
27616475 Gene variants as risk factors for gastroschisis. Padula AM et al. 2016 American journal of medical genetics. Part A
27639288 The ACE Gene Is Associated with Late-Life Major Depression and Age at Dementia Onset in a Population-Based Cohort. Zettergren A et al. 2017 The American journal of geriatric psychiatry
27923785 Genetic determination of the vascular reactions in humans in response to the diving reflex. Baranova TI et al. 2017 American journal of physiology. Heart and circulatory physiology
27940662 Deep-targeted exon sequencing reveals renal polymorphisms associate with postexercise hypotension among African Americans. Pescatello LS et al. 2016 Physiological reports
27988909 Estimation of the relationship between the polymorphisms of selected genes: ACE, AGTR1, TGFβ1 and GNB3 with the occurrence of primary vesicoureteral reflux. Życzkowski M et al. 2017 International urology and nephrology
28513230 Association of renin-angiotensin-aldosterone system gene polymorphisms with left ventricular hypertrophy in patients with heart failure with preserved ejection fraction: A case-control study. Bahramali E et al. 2017 Clinical and experimental hypertension (New York, N.Y.
28530466 Angiotensin type 1 receptor A1166C polymorphism and systemic lupus erythematosus: correlation with cellular immunity and oxidative stress markers. Baniamerian H et al. 2017 Lupus
28770234 SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. Buroker NE et al. 2017 Hypoxia (Auckland, N.Z.)
28792482 Association and Interaction Effect of AGTR1 and AGTR2 Gene Polymorphisms with Dietary Pattern on Metabolic Risk Factors of Cardiovascular Disease in Malaysian Adults. Yap RWK et al. 2017 Nutrients
28903744 Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents. Simonyte S et al. 2017 BMC medical genetics
29057680 The association of renin-angiotensinogen system genes polymorphisms and idiopathic recurrent pregnancy loss. Heidari MM et al. 2019 Human fertility (Cambridge, England)
29371770 Analysis of Association of Angiotensin II Type 1 Receptor Gene A1166C Gene Polymorphism with Essential Hypertension. Parchwani DN et al. 2018 Indian journal of clinical biochemistry
29520984 Genetic factors contributing to hypertension in African-based populations: A systematic review and meta-analysis. Yako YY et al. 2018 Journal of clinical hypertension (Greenwich, Conn.)
29593124 Association between 3'UTR polymorphisms in genes ACVR2A, AGTR1 and RGS2 and preeclampsia. Mendelova A et al. 2018 General physiology and biophysics
29627490 Genetically determined enlargement of carotid body evaluated using computed angiotomography. Jaźwiec P et al. 2018 Respiratory physiology & neurobiology
29701105 A prospective study of the impact of AGTR1 A1166C on the effects of candesartan in patients with heart failure. de Denus S et al. 2018 Pharmacogenomics
29982608 Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis. Moe SM et al. 2018 Nephrology, dialysis, transplantation
30009143 Angiotensin Type 2 Receptor Gene Polymorphisms and Susceptibility to Preeclampsia. Soltani-Zangbar MS et al. 2018 Journal of reproduction & infertility
30295198 [Left Ventricular Myocardial Hypertrophy as a Result of Arterial Hypertension Among Mountain Shoria Population. The Role of Genetic Polymorphism]. Barbarash OL et al. 2018 Kardiologiia
30387422 [Genetic Polymorphisms Associated with the Onset of Arterial Hypertension in a Portuguese Population]. Sousa AC et al. 2018 Acta medica portuguesa
30920415 Angiotensin II Type 1 Receptor rs5186 Gene Variant Predicts Incident NAFLD and Associated Hypertension: Role of Dietary Fat-Induced Pro-Inflammatory Cell Activation. Musso G et al. 2019 The American journal of gastroenterology
30951517 An AGTR1 Variant Worsens Nonalcoholic Fatty Liver Disease and the Metabolic Syndrome. de Gracia Hahn D et al. 2019 The American journal of gastroenterology
31048445 Genetic associations between genes in the renin-angiotensin-aldosterone system and renal disease: a systematic review and meta-analysis. Smyth LJ et al. 2019 BMJ open
31090375 Interrelation of cardiovascular risk factors with high albuminury among patients with arterial hypertension living in Mountain Shoriya. Mulerova ТА et al. 2019 Terapevticheskii arkhiv
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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