dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
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 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:148742201 (GRCh38.p14) 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=0.211712 (56038/264690, TOPMED)C=0.227483 (56561/248638, GnomAD_exome)C=0.278277 (66398/238604, ALFA) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- AGTR1 : 3 Prime UTR Variant
- Publications
- 156 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 255024 | A=0.725442 | C=0.274558 |
European | Sub | 210650 | A=0.705146 | C=0.294854 |
African | Sub | 15602 | A=0.93097 | C=0.06903 |
African Others | Sub | 536 | A=0.981 | C=0.019 |
African American | Sub | 15066 | A=0.92918 | C=0.07082 |
Asian | Sub | 786 | A=0.917 | C=0.083 |
East Asian | Sub | 610 | A=0.918 | C=0.082 |
Other Asian | Sub | 176 | A=0.915 | C=0.085 |
Latin American 1 | Sub | 1184 | A=0.7652 | C=0.2348 |
Latin American 2 | Sub | 6874 | A=0.7002 | C=0.2998 |
South Asian | Sub | 5048 | A=0.9095 | C=0.0905 |
Other | Sub | 14880 | A=0.73320 | C=0.26680 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | A=0.788288 | C=0.211712 |
gnomAD - Exomes | Global | Study-wide | 248638 | A=0.772517 | C=0.227483 |
gnomAD - Exomes | European | Sub | 134130 | A=0.724618 | C=0.275382 |
gnomAD - Exomes | Asian | Sub | 48798 | A=0.92278 | C=0.07722 |
gnomAD - Exomes | American | Sub | 34494 | A=0.70044 | C=0.29956 |
gnomAD - Exomes | African | Sub | 15130 | A=0.94223 | C=0.05777 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10040 | A=0.69243 | C=0.30757 |
gnomAD - Exomes | Other | Sub | 6046 | A=0.7418 | C=0.2582 |
Allele Frequency Aggregator | Total | Global | 238604 | A=0.721723 | C=0.278277 |
Allele Frequency Aggregator | European | Sub | 200520 | A=0.704947 | C=0.295053 |
Allele Frequency Aggregator | Other | Sub | 13428 | A=0.73339 | C=0.26661 |
Allele Frequency Aggregator | African | Sub | 10764 | A=0.92633 | C=0.07367 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6874 | A=0.7002 | C=0.2998 |
Allele Frequency Aggregator | South Asian | Sub | 5048 | A=0.9095 | C=0.0905 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1184 | A=0.7652 | C=0.2348 |
Allele Frequency Aggregator | Asian | Sub | 786 | A=0.917 | C=0.083 |
gnomAD - Genomes | Global | Study-wide | 140124 | A=0.790243 | C=0.209757 |
gnomAD - Genomes | European | Sub | 75872 | A=0.71767 | C=0.28233 |
gnomAD - Genomes | African | Sub | 42010 | A=0.93578 | C=0.06422 |
gnomAD - Genomes | American | Sub | 13638 | A=0.73830 | C=0.26170 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.6803 | C=0.3197 |
gnomAD - Genomes | East Asian | Sub | 3132 | A=0.9467 | C=0.0533 |
gnomAD - Genomes | Other | Sub | 2150 | A=0.7791 | C=0.2209 |
ExAC | Global | Study-wide | 118630 | A=0.777088 | C=0.222912 |
ExAC | Europe | Sub | 71916 | A=0.71853 | C=0.28147 |
ExAC | Asian | Sub | 25084 | A=0.92019 | C=0.07981 |
ExAC | American | Sub | 11488 | A=0.69838 | C=0.30162 |
ExAC | African | Sub | 9248 | A=0.9386 | C=0.0614 |
ExAC | Other | Sub | 894 | A=0.813 | C=0.187 |
The PAGE Study | Global | Study-wide | 78702 | A=0.85110 | C=0.14890 |
The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.92896 | C=0.07104 |
The PAGE Study | Mexican | Sub | 10810 | A=0.70712 | C=0.29288 |
The PAGE Study | Asian | Sub | 8318 | A=0.9083 | C=0.0917 |
The PAGE Study | PuertoRican | Sub | 7918 | A=0.7713 | C=0.2287 |
The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.8776 | C=0.1224 |
The PAGE Study | Cuban | Sub | 4230 | A=0.7537 | C=0.2463 |
The PAGE Study | Dominican | Sub | 3828 | A=0.8289 | C=0.1711 |
The PAGE Study | CentralAmerican | Sub | 2450 | A=0.7771 | C=0.2229 |
The PAGE Study | SouthAmerican | Sub | 1982 | A=0.7543 | C=0.2457 |
The PAGE Study | NativeAmerican | Sub | 1260 | A=0.7540 | C=0.2460 |
The PAGE Study | SouthAsian | Sub | 856 | A=0.914 | C=0.086 |
14KJPN | JAPANESE | Study-wide | 28258 | A=0.91942 | C=0.08058 |
8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.91820 | C=0.08180 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.8809 | C=0.1191 |
1000Genomes_30x | African | Sub | 1786 | A=0.9843 | C=0.0157 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.7196 | C=0.2804 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.9293 | C=0.0707 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.9393 | C=0.0607 |
1000Genomes_30x | American | Sub | 980 | A=0.771 | C=0.229 |
GO Exome Sequencing Project | Global | Study-wide | 5734 | A=0.7785 | C=0.2215 |
GO Exome Sequencing Project | European American | Sub | 3982 | A=0.7092 | C=0.2908 |
GO Exome Sequencing Project | African American | Sub | 1752 | A=0.9361 | C=0.0639 |
1000Genomes | Global | Study-wide | 5008 | A=0.8822 | C=0.1178 |
1000Genomes | African | Sub | 1322 | A=0.9796 | C=0.0204 |
1000Genomes | East Asian | Sub | 1008 | A=0.9405 | C=0.0595 |
1000Genomes | Europe | Sub | 1006 | A=0.7276 | C=0.2724 |
1000Genomes | South Asian | Sub | 978 | A=0.931 | C=0.069 |
1000Genomes | American | Sub | 694 | A=0.767 | C=0.233 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.7623 | C=0.2377 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6972 | C=0.3028 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.7012 | C=0.2988 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.9399 | C=0.0601 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | A=0.7931 | C=0.2069 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | A=0.736 | C=0.264 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.882 | C=0.118 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.869 | C=0.131 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.778 | C=0.222 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.96 | C=0.04 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.78 | C=0.22 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.681 | C=0.319 |
CNV burdens in cranial meningiomas | Global | Study-wide | 792 | A=0.952 | C=0.048 |
CNV burdens in cranial meningiomas | CRM | Sub | 792 | A=0.952 | C=0.048 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 613 | A=0.938 | C=0.062 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.747 | C=0.253 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.727 | C=0.273 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.859 | C=0.141 |
Qatari | Global | Study-wide | 216 | A=0.870 | C=0.130 |
SGDP_PRJ | Global | Study-wide | 116 | A=0.431 | C=0.569 |
PharmGKB Aggregated | Global | Study-wide | 94 | A=0.83 | C=0.17 |
PharmGKB Aggregated | PA151824698 | Sub | 94 | A=0.83 | C=0.17 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 52 | A=0.85 | C=0.15 |
The Danish reference pan genome | Danish | Study-wide | 40 | A=0.68 | C=0.33 |
Siberian | Global | Study-wide | 16 | A=0.38 | C=0.62 |
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.
Sequence name | Change |
---|---|
GRCh38.p14 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 |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
AGTR1 transcript variant 1 | NM_000685.5:c.*86= | N/A | 3 Prime UTR Variant |
AGTR1 transcript variant 6 | NM_001382736.1:c.*86= | N/A | 3 Prime UTR Variant |
AGTR1 transcript variant 7 | NM_001382737.1:c.*86= | N/A | 3 Prime UTR Variant |
AGTR1 transcript variant 2 | NM_009585.4:c.*86= | N/A | 3 Prime UTR Variant |
AGTR1 transcript variant 4 | NM_031850.4:c.*86= | N/A | 3 Prime UTR Variant |
AGTR1 transcript variant 5 | NM_032049.4:c.*86= | N/A | 3 Prime UTR Variant |
AGTR1 transcript variant 3 | NM_004835.5:c.*86= | N/A | 3 Prime UTR Variant |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000019688.6 | Hypertension, essential, susceptibility to | Risk-Factor |
RCV000374969.3 | Renal tubular dysgenesis | Benign |
RCV001723581.1 | not provided | Benign |
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 |
---|---|---|
GRCh38.p14 chr 3 | NC_000003.12:g.148742201= | NC_000003.12:g.148742201A>C |
GRCh37.p13 chr 3 | NC_000003.11:g.148459988= | NC_000003.11:g.148459988A>C |
AGTR1 RefSeqGene | NG_008468.1:g.49331= | NG_008468.1:g.49331A>C |
AGTR1 transcript variant 1 | NM_000685.5:c.*86= | NM_000685.5:c.*86A>C |
AGTR1 transcript variant 1 | NM_000685.4:c.*86= | NM_000685.4:c.*86A>C |
AGTR1 transcript variant 3 | NM_004835.5:c.*86= | NM_004835.5:c.*86A>C |
AGTR1 transcript variant 3 | NM_004835.4:c.*86= | NM_004835.4:c.*86A>C |
AGTR1 transcript variant 5 | NM_032049.4:c.*86= | NM_032049.4:c.*86A>C |
AGTR1 transcript variant 5 | NM_032049.3:c.*86= | NM_032049.3:c.*86A>C |
AGTR1 transcript variant 4 | NM_031850.4:c.*86= | NM_031850.4:c.*86A>C |
AGTR1 transcript variant 4 | NM_031850.3:c.*86= | NM_031850.3:c.*86A>C |
AGTR1 transcript variant 2 | NM_009585.4:c.*86= | NM_009585.4:c.*86A>C |
AGTR1 transcript variant 2 | NM_009585.3:c.*86= | NM_009585.3:c.*86A>C |
AGTR1 transcript variant 7 | NM_001382737.1:c.*86= | NM_001382737.1:c.*86A>C |
AGTR1 transcript variant 6 | NM_001382736.1:c.*86= | NM_001382736.1:c.*86A>C |
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#.
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 | ILLUMINA | ss2634026428 | Nov 08, 2017 (151) |
80 | ILLUMINA | ss2634026429 | Nov 08, 2017 (151) |
81 | GRF | ss2705336521 | Nov 08, 2017 (151) |
82 | GNOMAD | ss2734133033 | Nov 08, 2017 (151) |
83 | GNOMAD | ss2747119780 | Nov 08, 2017 (151) |
84 | GNOMAD | ss2800525940 | Nov 08, 2017 (151) |
85 | AFFY | ss2985273172 | Nov 08, 2017 (151) |
86 | AFFY | ss2985897638 | Nov 08, 2017 (151) |
87 | SWEGEN | ss2993391151 | Nov 08, 2017 (151) |
88 | ILLUMINA | ss3022299000 | Nov 08, 2017 (151) |
89 | BIOINF_KMB_FNS_UNIBA | ss3024681021 | Nov 08, 2017 (151) |
90 | CSHL | ss3345322373 | Nov 08, 2017 (151) |
91 | ILLUMINA | ss3628802765 | Oct 12, 2018 (152) |
92 | ILLUMINA | ss3631968486 | Oct 12, 2018 (152) |
93 | ILLUMINA | ss3631968487 | Oct 12, 2018 (152) |
94 | ILLUMINA | ss3633312584 | Oct 12, 2018 (152) |
95 | ILLUMINA | ss3634030478 | Oct 12, 2018 (152) |
96 | ILLUMINA | ss3634922462 | Oct 12, 2018 (152) |
97 | ILLUMINA | ss3635713962 | Oct 12, 2018 (152) |
98 | ILLUMINA | ss3636619864 | Oct 12, 2018 (152) |
99 | ILLUMINA | ss3637466389 | Oct 12, 2018 (152) |
100 | ILLUMINA | ss3638448504 | Oct 12, 2018 (152) |
101 | ILLUMINA | ss3640629760 | Oct 12, 2018 (152) |
102 | ILLUMINA | ss3642288846 | Oct 12, 2018 (152) |
103 | OMUKHERJEE_ADBS | ss3646294451 | Oct 12, 2018 (152) |
104 | URBANLAB | ss3647553128 | Oct 12, 2018 (152) |
105 | ILLUMINA | ss3652778572 | Oct 12, 2018 (152) |
106 | ILLUMINA | ss3652778573 | Oct 12, 2018 (152) |
107 | ILLUMINA | ss3654042678 | Oct 12, 2018 (152) |
108 | EGCUT_WGS | ss3661322270 | Jul 13, 2019 (153) |
109 | PATHPUNJABI | ss3685990256 | Jul 13, 2019 (153) |
110 | EVA_DECODE | ss3710525316 | Jul 13, 2019 (153) |
111 | ILLUMINA | ss3726068271 | Jul 13, 2019 (153) |
112 | ACPOP | ss3730456025 | Jul 13, 2019 (153) |
113 | ILLUMINA | ss3745222437 | Jul 13, 2019 (153) |
114 | EVA | ss3760841973 | Jul 13, 2019 (153) |
115 | PAGE_CC | ss3771072904 | Jul 13, 2019 (153) |
116 | ILLUMINA | ss3772717624 | Jul 13, 2019 (153) |
117 | KHV_HUMAN_GENOMES | ss3803976154 | Jul 13, 2019 (153) |
118 | EVA | ss3823965430 | Apr 25, 2020 (154) |
119 | EVA | ss3825644737 | Apr 25, 2020 (154) |
120 | EVA | ss3828134522 | Apr 25, 2020 (154) |
121 | EVA | ss3837500425 | Apr 25, 2020 (154) |
122 | EVA | ss3842931687 | Apr 25, 2020 (154) |
123 | SGDP_PRJ | ss3857227157 | Apr 25, 2020 (154) |
124 | KRGDB | ss3903264898 | Apr 25, 2020 (154) |
125 | FSA-LAB | ss3984265409 | Apr 26, 2021 (155) |
126 | FSA-LAB | ss3984265410 | Apr 26, 2021 (155) |
127 | EVA | ss3984516984 | Apr 26, 2021 (155) |
128 | EVA | ss3985028399 | Apr 26, 2021 (155) |
129 | EVA | ss3986258251 | Apr 26, 2021 (155) |
130 | EVA | ss4017111940 | Apr 26, 2021 (155) |
131 | TOPMED | ss4587891884 | Apr 26, 2021 (155) |
132 | TOMMO_GENOMICS | ss5162132496 | Apr 26, 2021 (155) |
133 | EVA | ss5237001182 | Apr 26, 2021 (155) |
134 | EVA | ss5237334545 | Apr 26, 2021 (155) |
135 | 1000G_HIGH_COVERAGE | ss5256452351 | Oct 12, 2022 (156) |
136 | EVA | ss5314901804 | Oct 12, 2022 (156) |
137 | EVA | ss5344052634 | Oct 12, 2022 (156) |
138 | HUGCELL_USP | ss5455548560 | Oct 12, 2022 (156) |
139 | EVA | ss5507246995 | Oct 12, 2022 (156) |
140 | 1000G_HIGH_COVERAGE | ss5536116255 | Oct 12, 2022 (156) |
141 | EVA | ss5624133145 | Oct 12, 2022 (156) |
142 | SANFORD_IMAGENETICS | ss5624534322 | Oct 12, 2022 (156) |
143 | SANFORD_IMAGENETICS | ss5633432269 | Oct 12, 2022 (156) |
144 | TOMMO_GENOMICS | ss5695169452 | Oct 12, 2022 (156) |
145 | EVA | ss5799401952 | Oct 12, 2022 (156) |
146 | EVA | ss5799420896 | Oct 12, 2022 (156) |
147 | EVA | ss5799595738 | Oct 12, 2022 (156) |
148 | EVA | ss5800051949 | Oct 12, 2022 (156) |
149 | YY_MCH | ss5804351719 | Oct 12, 2022 (156) |
150 | EVA | ss5826643152 | Oct 12, 2022 (156) |
151 | EVA | ss5847228264 | Oct 12, 2022 (156) |
152 | EVA | ss5847985853 | Oct 12, 2022 (156) |
153 | EVA | ss5848594990 | Oct 12, 2022 (156) |
154 | EVA | ss5853888358 | Oct 12, 2022 (156) |
155 | EVA | ss5871492517 | Oct 12, 2022 (156) |
156 | EVA | ss5936522873 | Oct 12, 2022 (156) |
157 | EVA | ss5961792449 | Oct 12, 2022 (156) |
158 | EVA | ss5979675347 | Oct 12, 2022 (156) |
159 | EVA | ss5980180222 | Oct 12, 2022 (156) |
160 | EVA | ss5981218320 | Oct 12, 2022 (156) |
161 | 1000Genomes | NC_000003.11 - 148459988 | Oct 12, 2018 (152) |
162 | 1000Genomes_30x | NC_000003.12 - 148742201 | Oct 12, 2022 (156) |
163 | The Avon Longitudinal Study of Parents and Children | NC_000003.11 - 148459988 | Oct 12, 2018 (152) |
164 | Genome-wide autozygosity in Daghestan | NC_000003.10 - 149942678 | Apr 25, 2020 (154) |
165 | Genetic variation in the Estonian population | NC_000003.11 - 148459988 | Oct 12, 2018 (152) |
166 | ExAC | NC_000003.11 - 148459988 | Oct 12, 2018 (152) |
167 | FINRISK | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
168 | The Danish reference pan genome | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
169 | gnomAD - Genomes | NC_000003.12 - 148742201 | Apr 26, 2021 (155) |
170 | gnomAD - Exomes | NC_000003.11 - 148459988 | Jul 13, 2019 (153) |
171 | GO Exome Sequencing Project | NC_000003.11 - 148459988 | Oct 12, 2018 (152) |
172 | Genome of the Netherlands Release 5 | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
173 | KOREAN population from KRGDB | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
174 | Medical Genome Project healthy controls from Spanish population | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
175 | Northern Sweden | NC_000003.11 - 148459988 | Jul 13, 2019 (153) |
176 | The PAGE Study | NC_000003.12 - 148742201 | Jul 13, 2019 (153) |
177 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000003.11 - 148459988 | Apr 26, 2021 (155) |
178 | CNV burdens in cranial meningiomas | NC_000003.11 - 148459988 | Apr 26, 2021 (155) |
179 | PharmGKB Aggregated | NC_000003.12 - 148742201 | Apr 25, 2020 (154) |
180 | Qatari | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
181 | SGDP_PRJ | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
182 | Siberian | NC_000003.11 - 148459988 | Apr 25, 2020 (154) |
183 | 8.3KJPN | NC_000003.11 - 148459988 | Apr 26, 2021 (155) |
184 | 14KJPN | NC_000003.12 - 148742201 | Oct 12, 2022 (156) |
185 | TopMed | NC_000003.12 - 148742201 | Apr 26, 2021 (155) |
186 | UK 10K study - Twins | NC_000003.11 - 148459988 | Oct 12, 2018 (152) |
187 | A Vietnamese Genetic Variation Database | NC_000003.11 - 148459988 | Jul 13, 2019 (153) |
188 | ALFA | NC_000003.12 - 148742201 | Apr 26, 2021 (155) |
189 | ClinVar | RCV000019688.6 | Oct 12, 2022 (156) |
190 | ClinVar | RCV000374969.3 | Oct 12, 2022 (156) |
191 | ClinVar | RCV001723581.1 | Oct 12, 2022 (156) |
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) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss77774725 | NC_000003.9:149942685:A:C | NC_000003.12:148742200:A:C | (self) |
330872, 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, 27461, 6395959, 3222879, 423720, 4386227, 10442292, 153460, 3740890, 254326, 66335, 4553222, 9244137, 2439333, 20101803, 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, 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, ss3823965430, ss3825644737, ss3828134522, ss3837500425, ss3857227157, ss3903264898, ss3984265409, ss3984265410, ss3984516984, ss3985028399, ss3986258251, ss4017111940, ss5162132496, ss5237334545, ss5314901804, ss5344052634, ss5507246995, ss5624133145, ss5624534322, ss5633432269, ss5799401952, ss5799420896, ss5799595738, ss5800051949, ss5826643152, ss5847228264, ss5847985853, ss5848594990, ss5936522873, ss5961792449, ss5979675347, ss5980180222, ss5981218320 | NC_000003.11:148459987:A:C | NC_000003.12:148742200:A:C | (self) |
RCV000019688.6, RCV000374969.3, RCV001723581.1, 23642190, 127366094, 294373, 9022, 29006556, 425269439, 14845370863, ss1505810988, ss2256845939, ss3024681021, ss3647553128, ss3685990256, ss3710525316, ss3726068271, ss3771072904, ss3803976154, ss3842931687, ss4587891884, ss5237001182, ss5256452351, ss5455548560, ss5536116255, ss5695169452, ss5804351719, ss5853888358, ss5871492517 | 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) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
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 |
24491308 | Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men. | Cartwright R et al. | 2014 | European urology |
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 |
29972410 | Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants. | Pereira A et al. | 2018 | Arquivos brasileiros de cardiologia |
29982608 | Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis. | Moe SM et al. | 2019 | Nephrology, dialysis, transplantation |
30009143 | Angiotensin Type 2 Receptor Gene Polymorphisms and Susceptibility to Preeclampsia. | Soltani-Zangbar MS et al. | 2018 | Journal of reproduction & infertility |
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30571812 | Additional value of a combined genetic risk score to standard cardiovascular stratification. | Pereira A et al. | 2018 | Genetics and molecular biology |
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 |
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31511791 | Contribution of Four Polymorphisms in Renin-Angiotensin-Aldosterone-Related Genes to Hypertension in a Thai Population. | Charoen P et al. | 2019 | International journal of hypertension |
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31637880 | MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis. | Gholami M et al. | 2019 | Cancer medicine |
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31912773 | The Polymorphism at the microRNA-155 Binding Site in the AGTR1 Gene is not Significantly Associated with Rheumatic Heart Disease in Saudi Arabia Population. | Carlus SJ et al. | 2020 | MicroRNA (Shariqah, United Arab Emirates) |
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34137427 | Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population. | Mendonça MI et al. | 2021 | Genetics and molecular biology |
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34302265 | Genetic polymorphisms in the renin-angiotensin system and cognitive decline in Parkinson's disease. | Pierzchlińska A et al. | 2021 | Molecular biology reports |
34308116 | Genetic factors associated with obesity risks in a Kazakhstani population. | Razbekova M et al. | 2021 | BMJ nutrition, prevention & health |
34384461 | Effects of moderate-intensity intermittent hypoxic training on health outcomes of patients recovered from COVID-19: the AEROBICOVID study protocol for a randomized controlled trial. | Trapé ÁA et al. | 2021 | Trials |
34638656 | Towards Understanding the Genetic Nature of Vasovagal Syncope. | Matveeva N et al. | 2021 | International journal of molecular sciences |
34805533 | Association between angiotensinogen (AGT), angiotensin-converting enzyme (ACE) and angiotensin-II receptor 1 (AGTR1) polymorphisms and COVID-19 infection in the southeast of Iran: a preliminary case-control study. | Kouhpayeh HR et al. | 2021 | Translational medicine communications |
34898568 | Renin-Angiotensin System Single Nucleotide Polymorphisms Are Associated with Bladder Cancer Risk. | Samara M et al. | 2021 | Current oncology (Toronto, Ont.) |
35091110 | Allele С (rs5186) of at1r is associated with the severity of COVID-19 in the Ukrainian population. | Izmailova O et al. | 2022 | Infection, genetics and evolution |
35126748 | Association of AGTR1 (rs5186), VDR (rs2228570) genes polymorphism with blood pressure elevation in patients with essential arterial hypertension. | Semianiv MM et al. | 2021 | Journal of medicine and life |
35886041 | The Genetic Variants in the Renin-Angiotensin System and the Risk of Heart Failure in Polish Patients. | Gorący I et al. | 2022 | Genes |
35987511 | Systematic review and meta-analysis of human genetic variants contributing to COVID-19 susceptibility and severity. | Gupta K et al. | 2022 | Gene |
35998845 | Role of Polymorphisms on the Recurrent Pregnancy Loss: A Systematic Review, Meta-analysis and Bioinformatic Analysis. | Jalilvand A et al. | 2022 | Gene |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.