AGT

angiotensinogen

Summary

The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]

Known Variants192 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61751087	1:230,837,893	A/G	—	—
rs2067853	1:230,838,258	A/G	—	benign
rs1472269720	1:230,838,273	T/C	—	uncertain significance
rs7079	1:230,838,331	G/T	regulatory region variant	benign
rs767078016	1:230,838,373	C/T	—	uncertain significance
rs886046077	1:230,838,374	G/T	—	uncertain significance
rs886046078	1:230,838,379	G/A	—	uncertain significance
rs5044	1:230,838,464	A/C	—	uncertain significance
rs886046079	1:230,838,503	T/G	—	uncertain significance
rs1663269207	1:230,838,540	C/T	—	uncertain significance
rs553732498	1:230,838,599	G/A	—	uncertain significance
rs765914094	1:230,838,600	C/T	—	uncertain significance
rs926471728	1:230,838,661	A/G	—	uncertain significance
rs371105256	1:230,838,676	G/A	—	likely benign
rs5043	1:230,838,720	A/G	—	uncertain significance
rs61751079	1:230,838,728	C/T	—	likely benign
rs4753	1:230,838,729	G/C	—	benign
rs886046080	1:230,838,804	C/T	—	uncertain significance
rs5042	1:230,838,847	G/A	—	likely benign
rs143479528	1:230,838,903	G/A	—	likely benign
rs766166368	1:230,838,913	C/T	—	uncertain significance
rs758322256	1:230,838,914	G/A	—	likely benign
rs146284519	1:230,838,915	C/T	—	uncertain significance
rs267598410	1:230,838,916	G/A	—	uncertain significance
rs779317069	1:230,838,939	G/T	—	uncertain significance
rs371051808	1:230,838,950	A/G	—	likely benign
rs377754608	1:230,838,953	C/T	—	likely benign
rs2527699647	1:230,838,967	A/T	—	uncertain significance
rs770652568	1:230,838,972	C/T	—	uncertain significance
rs375261929	1:230,838,973	G/A	—	conflicting classifications of pathogenicity
rs2527699707	1:230,838,986	C/T	—	likely benign
rs61751078	1:230,839,000	G/C	—	uncertain significance
rs1000819860	1:230,839,003	T/C	—	uncertain significance
rs61751077	1:230,839,020	G/A	—	likely benign
rs61751076	1:230,839,044	G/A	—	uncertain significance
rs1663285545	1:230,839,076	C/T	—	uncertain significance
rs1369546117	1:230,839,087	C/A	—	likely benign
rs557964080	1:230,839,945	C/G	—	likely benign
rs61751067	1:230,839,947	C/T	—	uncertain significance
rs768125504	1:230,839,974	G/T	—	uncertain significance
rs573313754	1:230,839,975	C/A	—	conflicting classifications of pathogenicity
rs886046081	1:230,839,986	C/T	—	uncertain significance
rs764635248	1:230,839,987	G/A	—	likely benign
rs368537638	1:230,840,002	G/A	—	likely benign
rs1805090	1:230,840,034	G/T	—	conflicting classifications of pathogenicity
rs61731499	1:230,840,054	A/G	—	likely benign
rs113943893	1:230,840,056	C/T	—	likely benign
rs1174250325	1:230,840,093	T/C	—	likely benign
rs1926723	1:230,840,096	T/C	intron variant	benign
rs1926722	1:230,840,197	C/A	—	benign
rs11122575	1:230,840,269	A/G	—	benign
rs2478523	1:230,841,509	A/G	—	benign
rs3827749	1:230,841,559	G/A	—	benign
rs11568042	1:230,841,561	G/A	—	benign
rs115636911	1:230,841,671	G/A	—	likely benign
rs74315283	1:230,841,679	C/A	missense variant	uncertain significance
rs7080	1:230,841,687	T/C	—	likely benign
rs778806374	1:230,841,716	G/A	stop gained	pathogenic
rs1663373333	1:230,841,732	C/A	—	uncertain significance
rs150452789	1:230,841,749	C/T	—	uncertain significance
rs1663373980	1:230,841,750	A/G	—	uncertain significance
rs376668080	1:230,841,753	G/C	—	likely benign
rs769005941	1:230,841,759	G/A	—	likely benign
rs11568041	1:230,841,780	G/A	—	benign
rs2527705859	1:230,841,784	G/C	—	uncertain significance
rs143215026	1:230,841,785	C/T	—	uncertain significance
rs757224767	1:230,841,793	G/A	—	uncertain significance
rs769057325	1:230,841,819	G/A	—	likely benign
rs151194891	1:230,841,824	C/G	—	uncertain significance
rs2527706027	1:230,841,843	C/T	—	likely benign
rs771576624	1:230,841,852	G/A	—	conflicting classifications of pathogenicity
rs1478226147	1:230,841,862	G/C	—	uncertain significance
rs776504572	1:230,841,870	G/T	—	likely benign
rs200945788	1:230,841,882	T/G	—	likely benign
rs61757178	1:230,841,891	G/A	—	likely benign
rs748569303	1:230,841,912	G/A	—	uncertain significance
rs61762530	1:230,841,914	G/A	—	uncertain significance
rs139685563	1:230,841,917	C/T	—	conflicting classifications of pathogenicity
rs143351998	1:230,841,918	G/A	—	likely benign
rs377397992	1:230,841,920	C/A	—	uncertain significance
rs374691846	1:230,841,957	G/C	—	likely benign
rs150424478	1:230,841,961	G/A	—	likely benign
rs371187328	1:230,841,966	C/T	—	likely benign
rs2478545	1:230,844,121	G/A	downstream gene variant	—
rs2493133	1:230,844,273	T/A	—	—
rs2478539	1:230,844,772	G/A	—	—
rs6687360	1:230,844,992	C/G	—	—
rs11568054	1:230,845,555	G/A	downstream gene variant	benign
rs747815674	1:230,845,740	C/A	splice region variant	pathogenic
rs374407232	1:230,845,753	C/T	—	uncertain significance
rs543740975	1:230,845,754	G/A	—	uncertain significance
rs56073403	1:230,845,755	T/C	—	uncertain significance
rs759652013	1:230,845,760	G/A	—	likely benign
rs1228544607	1:230,845,767	G/T	—	uncertain significance
rs2527714604	1:230,845,788	G/C	—	uncertain significance
rs699	1:230,845,794	A/G	missense variant	benign
rs779634377	1:230,845,800	G/A	—	uncertain significance
rs147721058	1:230,845,807	C/T	—	conflicting classifications of pathogenicity
rs749172070	1:230,845,825	C/T	—	uncertain significance
rs5041	1:230,845,866	A/C	—	conflicting classifications of pathogenicity

Showing 100 of 192 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.