AGTR1
angiotensin II receptor type 1
Summary
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Known Variants134 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs275651 | 3:148,414,887 | T/A | upstream gene variant | — |
| rs275652 | 3:148,414,984 | T/G | upstream gene variant | — |
| rs1492078 | 3:148,415,177 | T/C | regulatory region variant | — |
| rs275653 | 3:148,415,545 | A/G | regulatory region variant | — |
| rs529360494 | 3:148,415,660 | T/G | — | uncertain significance |
| rs148296224 | 3:148,415,670 | G/T | — | benign |
| rs1712056842 | 3:148,415,693 | C/G | — | uncertain significance |
| rs886058068 | 3:148,415,715 | C/G | — | uncertain significance |
| rs547351627 | 3:148,415,807 | G/T | — | likely benign |
| rs893515670 | 3:148,415,819 | T/C | — | uncertain significance |
| rs2307085 | 3:148,415,862 | C/A | — | benign |
| rs3772633 | 3:148,418,168 | T/C | upstream gene variant | — |
| rs12721304 | 3:148,423,693 | G/A | — | — |
| rs1712763222 | 3:148,425,747 | A/G | — | uncertain significance |
| rs941217805 | 3:148,425,821 | G/A | — | uncertain significance |
| rs2276736 | 3:148,425,873 | A/G | regulatory region variant | — |
| rs3772630 | 3:148,426,472 | T/A | — | — |
| rs3772627 | 3:148,430,254 | A/G | regulatory region variant | — |
| rs3772622 | 3:148,435,753 | T/A | — | — |
| rs1492100 | 3:148,437,427 | T/A | regulatory region variant | — |
| rs1492099 | 3:148,437,503 | T/C | regulatory region variant | — |
| rs1492097 | 3:148,437,689 | G/A | intron variant | — |
| rs3772616 | 3:148,438,191 | C/T | intron variant | — |
| rs4524238 | 3:148,439,788 | G/A | intron variant | — |
| rs12695895 | 3:148,443,268 | C/T | intron variant | — |
| rs16860760 | 3:148,444,637 | G/A | intron variant | — |
| rs389566 | 3:148,446,382 | A/T | intron variant | — |
| rs388915 | 3:148,447,756 | A/G | — | benign |
| rs1714171724 | 3:148,447,995 | A/G | — | uncertain significance |
| rs981225093 | 3:148,448,006 | G/C | — | uncertain significance |
| rs12721291 | 3:148,457,473 | T/C | — | benign |
| rs1800766 | 3:148,457,642 | C/T | — | benign |
| rs754749117 | 3:148,457,742 | C/T | — | likely benign |
| rs12695921 | 3:148,457,845 | T/C | — | benign |
| rs12695923 | 3:148,457,910 | T/C | — | benign |
| rs12695925 | 3:148,458,463 | T/A | — | benign |
| rs1349409162 | 3:148,458,782 | T/G | — | uncertain significance |
| rs376789057 | 3:148,458,806 | C/T | — | conflicting classifications of pathogenicity |
| rs138997091 | 3:148,458,807 | G/A | — | conflicting classifications of pathogenicity |
| rs751575775 | 3:148,458,935 | T/C | — | uncertain significance |
| rs767852386 | 3:148,458,942 | G/A | — | likely benign |
| rs1714850901 | 3:148,458,960 | C/G | — | uncertain significance |
| rs886058069 | 3:148,458,974 | T/C | — | uncertain significance |
| rs150629733 | 3:148,458,977 | T/G | — | uncertain significance |
| rs758161051 | 3:148,458,992 | T/C | — | uncertain significance |
| rs2472792622 | 3:148,458,999 | G/A | — | likely benign |
| rs111980524 | 3:148,459,015 | G/A | — | likely benign |
| rs988598349 | 3:148,459,024 | T/C | — | likely benign |
| rs753149496 | 3:148,459,030 | T/A | — | uncertain significance |
| rs748117430 | 3:148,459,043 | A/C | — | uncertain significance |
| rs398122935 | 3:148,459,073 | G/A | stop gained | pathogenic |
| rs774646145 | 3:148,459,075 | G/T | — | uncertain significance |
| rs765894072 | 3:148,459,120 | C/T | — | likely benign |
| rs201745152 | 3:148,459,129 | A/T | — | uncertain significance |
| rs145708722 | 3:148,459,130 | T/C | — | uncertain significance |
| rs756085408 | 3:148,459,143 | C/T | — | likely benign |
| rs949465624 | 3:148,459,161 | C/T | — | likely benign |
| rs140542820 | 3:148,459,162 | G/A | — | uncertain significance |
| rs397514687 | 3:148,459,198 | C/T | stop gained | pathogenic |
| rs762020328 | 3:148,459,199 | G/C | — | uncertain significance |
| rs369846514 | 3:148,459,222 | A/G | — | uncertain significance |
| rs1467552528 | 3:148,459,230 | C/A | — | likely benign |
| rs1417391173 | 3:148,459,237 | C/T | — | pathogenic |
| rs570056677 | 3:148,459,241 | G/A | — | conflicting classifications of pathogenicity |
| rs756951904 | 3:148,459,249 | C/A | — | uncertain significance |
| rs1329812513 | 3:148,459,250 | T/G | — | uncertain significance |
| rs12721226 | 3:148,459,309 | G/A | missense variant | likely benign |
| rs200184769 | 3:148,459,322 | G/A | — | conflicting classifications of pathogenicity |
| rs1038081292 | 3:148,459,329 | A/G | — | likely benign |
| rs5182 | 3:148,459,395 | C/T | synonymous variant | benign |
| rs772616879 | 3:148,459,397 | C/T | — | uncertain significance |
| rs766645736 | 3:148,459,398 | G/A | — | likely benign |
| rs2472793958 | 3:148,459,406 | T/C | — | uncertain significance |
| rs886058070 | 3:148,459,431 | T/C | — | uncertain significance |
| rs777986489 | 3:148,459,444 | T/C | — | uncertain significance |
| rs201574669 | 3:148,459,512 | G/A | — | benign |
| rs151206107 | 3:148,459,519 | C/A | — | uncertain significance |
| rs762800866 | 3:148,459,529 | A/T | — | uncertain significance |
| rs752880266 | 3:148,459,551 | G/T | — | uncertain significance |
| rs12721225 | 3:148,459,552 | G/T | — | likely benign |
| rs2472794497 | 3:148,459,554 | A/G | — | likely benign |
| rs377357687 | 3:148,459,555 | A/G | — | uncertain significance |
| rs188281474 | 3:148,459,558 | G/C | — | uncertain significance |
| rs2472794534 | 3:148,459,563 | T/A | — | likely benign |
| rs2107975615 | 3:148,459,583 | T/A | — | uncertain significance |
| rs886058071 | 3:148,459,586 | C/T | — | uncertain significance |
| rs773017244 | 3:148,459,601 | C/T | — | uncertain significance |
| rs1714920704 | 3:148,459,619 | T/C | — | uncertain significance |
| rs1034593197 | 3:148,459,622 | A/G | — | uncertain significance |
| rs762651737 | 3:148,459,627 | G/A | — | uncertain significance |
| rs767722134 | 3:148,459,636 | C/T | — | uncertain significance |
| rs1218342417 | 3:148,459,637 | G/C | — | uncertain significance |
| rs104893677 | 3:148,459,667 | C/T | missense variant | pathogenic |
| rs747780318 | 3:148,459,688 | G/T | missense variant | uncertain significance |
| rs368951368 | 3:148,459,715 | A/G | — | uncertain significance |
| rs764229950 | 3:148,459,747 | T/C | — | uncertain significance |
| rs199541646 | 3:148,459,763 | T/G | — | uncertain significance |
| rs146357970 | 3:148,459,764 | C/T | — | conflicting classifications of pathogenicity |
| rs200411216 | 3:148,459,796 | A/G | — | uncertain significance |
| rs2472795707 | 3:148,459,815 | A/G | — | likely benign |
Showing 100 of 134 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.