ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)LO000236LAGT11q42-q43
Synonyms: SERPINA8 ; ANHU ; angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin) ;
Sites List: 
See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   PharmGKB Gene Information    UniGene   
References: See References
Locus Description: AGT encodes angiotensinogen, the precursor to the potent vasoconstrictor angiotensin II (AT-II). Angiotensinogen is synthesised in the liver and is subsequently modified by renin (to angiotensin I) then by ACE (Locus UID: LO000205H) to form AT-II. Isa et al. (1989, 1990 [PubMed ID: 2286380]) determined the location of AGT on chromosome 1q42-q43 by using in situ hybridization. In the AGT gene, a T to C transition at base 704 (T/C704) that substitutes a threonine for a methionine at residue 235 has been associated with heart disease (Katsuya et al., 1995 [PubMed ID: 7783537]) and hypertension (Atwood et al., 1997 [PubMed ID: 9314412]).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)
dbSNP rs#
(Navigates to dbSNP
reference page)
Chr-PositionStatus# Populations
typed
(6232)G/Ars3789669   22891025663
rs4846866rs4846866   230836065114
rs7536290rs7536290   230836702114
(13073)G/T rs16852352   23083678614
(12821)A/Grs943580   230837044119
(12685)A/Grs11122573   23083718014
(12651)C/Trs943581   23083721414
(12428)C/Trs10864770   23083743714
(12193)A/Crs10864771   23083767214
(12057)A/Grs11122574   23083780881
(11750)C/Trs11568046   23083811514
(11607)C/Trs2067853   23083825864
(11534)A/Crs7079   23083833181
(11401)G/Trs5044   23083846414
(11145)C/Trs5043   23083872014
(11136)G/Crs4753   23083872914
(11018)C/Trs5042   23083884714
(10382)A/Crs11568045   23083948314
(10044)A/Grs11568044   23083982114
(9769)A/Grs1926723   23084009670
(9668)G/Trs1926722   23084019714
(9596)C/Trs11122575   23084026914
(8923)A/Grs2493129   23084094214
(8862)A/Grs10864772   23084100314
(8356)C/Trs2478523   23084150981
(8306)A/Grs3827749   23084155914
(8304)C/Trs11568042   23084156114
rs7080rs7080   23084168714
(7886)C/Trs11568040   23084197914
(7502)C/Trs11568039   23084236314
(7368)A/Grs11568056   23084249714
(7024)A/Grs2493130   23084284114
(6626G/T)rs12125552   23084323914
(6441)C/Trs3789664   23084342414
(6427)G/Crs3789666   23084343814
(6419)A/Grs3789667   23084344614
(6360)C/Trs2493131   23084350514
(6308)C/Trs2493132   23084355714
AGT gene LI SNPs 3-site haplotypers3789669   23084363355
(6151)C/Trs3789670   230843714119
(6065)G/Trs3789671   23084380014
(5877)T/Grs3789672   23084398814
(5744)C/Trs2478545   230844121119
(5669)C/Grs2478544   23084419614
(5592)C/Trs2493133   23084427314
(5555)A/Grs2478543   23084431014
(5485)A/Grs3789677   23084438014
(5259)A/Grs11568055   23084460614
(5175)A/Grs11568035   23084469014
(5093)A/Crs2478539   23084477214
(4873)C/Trs6687360   23084499283
(4527)A/Grs11568034   23084533914
(4481)A/Crs7543316   23084538514
(4295)C/Trs28730748   23084557114
(4219)A/Grs11568033   23084564714
exon 2 T/C704 (also known as M235T)rs699   230845794141
Leu244Argrs5041   23084586614
Thr174Metrs4762   230845977119
(3679)A/Grs34829218   23084618714
Ala110Alars5040   23084626714
Glu98Lysrs11568032   23084630514
Val91Valrs11568052   23084632414
(3187)A/Grs11122576   23084667914
(3023)A/Grs11568030   23084684314
(2951)A/Trs11568029   23084691514
(2722)C/Trs11568051   23084710414
(2622)G/Ars11568028   23084724414
(2593)A/Grs11568050   23084727314
(2420)A/Grs11568027   23084744614
(2343)C/Trs11568026   23084752381
(2310)G/Trs11122577   23084755614
(2180)A/Crs1326883   23084768614
(2077)C/Trs11122578   23084778914
(1851)A/Grs11568025   23084801514
(1713)G/Trs11568024   23084815314
(1347)T/Crs11568023   23084817914
(1257)T/Crs11568022   23084860914
(1164)A/Grs2004776   23084870214
(1035)A/Grs3889728   23084883114
(770)C/Trs1078499   23084909664
(698)T/Crs7539013   23084916814
(676)T/Crs7539020   23084919014
(515)A/Grs11568021   23084935114
(507)T/Crs2493134   23084935983
(409)T/Crs3827750   23084945714
(384)T/Crs3789678   23084948214
(266)T/Grs11568049   23084960014
(172)A/Grs3789679   23084969463
(+68)C/T rs2148582   23084979914
(-6)C/Trs5051   23084987265
(-20)G/Trs5050   23084988681
(-152)A/Grs11568020   23085001883
(-217)A/Grs5049   23085008315
(-260)A/Grs5048   23085012614
(-385)A/Grs5047   23085025114
(-532)C/Trs5046   23085039814
(-604)C/Grs5045   23085047014
(-775)C/Trs2071406   23085064114
(-792)A/Grs2071405   23085065814
(-812)G/Trs7533803   23085067814
(-829)A/T rs11568019   23085069514
(-1074)G/Trs2071404   23085094083
(-1178)A/Grs11122580   23085104414
rs2493137rs2493137   230852116114
rs7555650rs7555650   23085499975

References:
- Atwood LD, Kammerer CM, Samollow PB, Hixson JE, Shade RE, MacCluer JW. "Linkage of essential hypertension to the angiotensinogen locus in Mexican Americans". Hypertension 30:326-30. (1997)
Online citation.

- Isa MN, Boyd E, Morrison N, Harrap S, Clauser E, Connor JM. "Assignment of the human angiotensinogen gene to chromosome 1q42-q43 by nonisotopic in situ hybridization [corrected]". Genomics 8:598-600. (1990) Online citation.

- Isa MN, Boyd E, Morrison N, Theriault A, Connor JM, Harrap S, Clauser E. "Regional chromosomal localization of the human angiotensinogen gene to 1q4.42-4.43 band". Am. J. Hum. Genet. 45:A144. (1989)

- Katsuya T, Koike G, Yee TW, Sharpe N, Jackson R, Norton R, Horiuchi M, Pratt RE, Dzau VJ, MacMahon S. "Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease". Lancet 345:1600-3. (1995) Online citation.

- Rupert JL, Kidd KK, Norman LE, Monsalve MV, Hochachka PW, Devine DV. "Genetic polymorphisms in the renin-angiotensin system in high-altitude and low-altitude Native American populations". Ann Hum Genet 67:17-25. (2003) Online citation.

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Originally prototyped by Michael Osier with the aid of Kei Cheung
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