rs699

minus

Geno	Mag	Summary
(C;C)	2	increased risk of hypertension
(C;T)	2	increased risk of hypertension
(T;T)		normal risk of hypertension

Reference

GRCh38 38.1/141

Chromosome

1

Position

230710048

Gene

AGT

is a	snp
is	mentioned by
dbSNP	rs699
dbSNP (classic)	rs699
ClinGen	rs699
ebi	rs699
HLI	rs699
Exac	rs699
Gnomad	rs699
Varsome	rs699
LitVar	rs699
Map	rs699
PheGenI	rs699
Biobank	rs699
1000 genomes	rs699
hgdp	rs699
ensembl	rs699
geneview	rs699
scholar	rs699
google	rs699
pharmgkb	rs699
gwascentral	rs699
openSNP	rs699
23andMe	rs699
SNPshot	rs699
SNPdbe	rs699
MSV3d	rs699
GWAS Ctlg	rs699

GMAF

0.3384

Max Magnitude

2

?

(C;C) (C;T) (T;T)

28

rs699 is a SNP in the angiotensin AGT gene that encodes a functional change. In most published literature, the name for this SNP is M235T, or perhaps Met235Thr, however its amino acid 268 (not 235) that varies based on the numbering in todays databases. rs699 is also occasionally known as C4072T.

In any case, the rs699(C) allele encodes the threonine variant, which is associated with higher plasma angiotensin levels, and ultimately higher blood pressure leading to increased risk for hypertension associated disorders.

This association was first reported in 1992 [PMID 1394429], and many studies, though not all, have replicated these findings.[PMID 11731937 ]

rs699 is also (generally) reported to be in tight linkage with rs5051, a neighboring SNP in the promoter of the AGT gene.

rs699(C) has also been implicated as a risk allele in at least two Caucasian populations for pre-eclampsia (pregnancy-induced hypertension)[PMID 8513325, PMID 8348146] but did not present a risk in one African population [PMID 16059745].

[PMID 19108684] A haplotype of rs4311, rs4343, rs699 increases risk of diabetic nephropathy 4x.

[PMID 18653189] Interaction of gender, hypertension, and the angiotensinogen gene haplotypes on the risk of coronary artery disease in a large angiographic cohort

[PMID 19932491] Angiotensinogen polymorphisms and acquired atrial fibrillation in Chinese

[PMID 20029521] The C allele of the AGT Met235Thr polymorphism is associated with power sports performance

[PMID 20185782 ] Renin Angiotensin System Gene Polymorphisms and Cerebral Blood Flow Regulation. The MOBILIZE Boston Study

[PMID 20592051 ] Interactions among related genes of renin-angiotensin system associated with type 2 diabetes

[PMID 20570668] Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau

[PMID 21261619] Genetic variation in renin predicts the effects of thiazide diuretics

[PMID 21306748 ] The association of the angiotensinogen gene with insulin sensitivity in humans: a tagging single nucleotide polymorphism and haplotype approach

OMIM	106150
Desc
Variant	0001
Related	also

[PMID 21988197] Angiotensinogen gene haplotype is associated with the prevalence of Japanese non-alcoholic steatohepatitis

[PMID 22508051] Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions

[PMID 22531885] Revising the M235T Polymorphism Position for the AGT Gene and Reporting a Modifying Variant in the Brazilian Population with Potential Cardiac and Neural Impact

[PMID 22569109 ] The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

ClinVar
Risk	Rs699(C;C)
Alt	Rs699(C;C)
Reference	Rs699(T;T)
Significance	Other
Disease	Hypertension Preeclampsia Susceptibility to progression to renal failure in IgA nephropathy not specified Renal dysplasia
Variation	info
Gene	AGT
CLNDBN	Hypertension, essential, susceptibility to Preeclampsia, susceptibility to Susceptibility to progression to renal failure in IgA nephropathy not specified Renal dysplasia
Reversed	1
HGVS	NC_000001.10:g.230845794A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019691.4, RCV000019692.4, RCV000019693.4, RCV000242838.1, RCV000405686.1,

[PMID 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.

[PMID 18248681 ] Prevalence of common disease-associated variants in Asian Indians.

[PMID 18279468 ] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.

[PMID 18513389 ] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 18603647 ] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18637188 ] RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.

[PMID 18698212 ] Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.

[PMID 18953568 ] Male-female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population.

[PMID 19131662 ] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19263529 ] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19330901 ] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19559392 ] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 20061926] Randomized controlled trial: lisinopril reduces proteinuria, ammonia, and renal polypeptide tubular catabolism in patients with chronic allograft nephropathy.

[PMID 20486282 ] Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.

[PMID 21304999 ] Epistatic interactions in genetic regulation of t-PA and PAI-1 levels in a Ghanaian population.

[PMID 21438754] Gene variation in resistant hypertension: multilocus analysis of the angiotensin 1-converting enzyme, angiotensinogen, and endothelial nitric oxide synthase genes.

[PMID 23132613] Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis

[PMID 23681449] Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way

[PMID 23681285] Association of aldosterone synthase (CYP11B2) gene -344T/C polymorphism with the risk of primary chronic glomerulonephritis in the Polish population

[PMID 23716723] The Relationship Between Angiotensinogen Gene Polymorphisms and Essential Hypertension in a Northern Han Chinese Population

[PMID 24622918] Renin-Angiotensin System Genetic Polymorphisms and Brain White Matter Lesions in Older Australians

[PMID 22858200] Angiotensinogen gene polymorphisms and food-intake behavior in young, normal female subjects in Japan.

[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.

[PMID 23251296 ] Assessment of two missense polymorphisms (rs4762 and rs699) of the angiotensinogen gene and stroke.

[PMID 23333443] Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.

[PMID 23354977] Human loci involved in drug biotransformation: worldwide genetic variation, population structure, and pharmacogenetic implications.

[PMID 24860821 ] Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study

[PMID 25020710] P324Circadian genes in the regulation of lipids in coronary artery disease

[PMID 25683681] Positive Association of D Allele of ACE Gene With High Altitude Pulmonary Edema in Indian Population

[PMID 24722536 ] Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients

[PMID 27480094] Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers.

[PMID 28271690] Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population.

[PMID 28361007 ] Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population.