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From SNPedia

Geno Mag Summary
(A;A) 2 ACE I/I genotype
(A;G) 2 ACE I/D genotype
(G;G) 2 ACE D/D genotype
ReferenceGRCh38.p2 38.2/146
is asnp
is mentioned by
dbSNP (classic)rs4343
1000 genomesrs4343
GWAS Ctlgrs4343
Max Magnitude2

See ACE for a more complete description of the history of the ACI insertion/deletion (I/D) allele and various associations reported over the years.

Perhaps the best documented correlation of a linked SNP to the presence or absence of the Alu insertion represented by the I/D ACE polymorphism is rs4343. More specifically: the rs4343(A) allele is associated with the ACE-I (insertion) allele, and the rs4343(G) allele is associated with the ACE-D allele.[PMID 18057531OA-icon.png]

Another SNP in linkage disequilibrium with the ACE I/D polymorphism is rs4341.[PMID 18622756],[PMID 19291311OA-icon.png]

? (A;A) (A;G) (G;G) 28

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

[PMID 19956428OA-icon.png] Angiotensin-converting enzyme levels and activity in Alzheimer's disease: differences in brain and CSF ACE and association with ACE1 genotypes

GWAS snp
PMID [PMID 20066004]
Trait Angiotensin-converting enzyme activity
Title A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor
Risk Allele G
P-val 3E-25
Odds Ratio 16.20 [NR] % variance

[PMID 20639399] Association between angiotensin converting enzyme G2350A polymorphism and hypertension risk: a meta-analysis

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

[PMID 14986105] Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease.

[PMID 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.

[PMID 17460369] Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension.

[PMID 18076107OA-icon.png] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

[PMID 18431000] Haplotypes across ACE and the risk of Alzheimer's disease: the three-city study.

[PMID 18622756] An alternative method for genotyping of the ACE I/D polymorphism.

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

[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18813964OA-icon.png] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

[PMID 19105203OA-icon.png] An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

[PMID 19291311OA-icon.png] ACE I/D genotype, adiposity, and blood pressure in children.

[PMID 19539712] An age effect on the association of common variants of ACE with Alzheimer's disease.

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

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20625269] Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population.

[PMID 20682755OA-icon.png] A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.

[PMID 21258267] Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage.

[PMID 21297258OA-icon.png] A multi-center study of ACE and the risk of late-onset Alzheimer's disease.

[PMID 21709586] Common variants of the ACE gene and aneurysmal subarachnoid hemorrhage in a Danish population: a case-control study.

[PMID 21832968] Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes.

[PMID 22388798OA-icon.png] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.

[PMID 23065222] Association of angiotensin-converting enzyme gene 2350 G/A polymorphism with diabetic retinopathy in Chinese Han population.

[PMID 24851853] Angiotensin-converting enzyme gene polymorphisms and risk for sporadic Alzheimer's disease: a meta-analysis

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

GWAS snp
PMID [PMID 24625756OA-icon.png]
Trait Serum metabolite levels
Title Genetic determinants influencing human serum metabolome among African Americans.
Risk Allele G
P-val 9E-25
Odds Ratio .22 [NR] unit increase
GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite ratios
Title An atlas of genetic influences on human blood metabolites.
Risk Allele A
P-val 1E-37
Odds Ratio .06 [0.049-0.069] unit decrease

[PMID 26242120] [Relevant Research on ACE Gene Single Nucleotide Polymorphisms and Premature Coronary Heart Disease Patients with Blood Stasis Syndrome]

[PMID 26403748] [Association between angiotensin-converting enzyme gene polymorphism and Alzheimer's disease]

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

[PMID 26823847OA-icon.png] Association of angiotensin-converting enzyme gene polymorphisms with Crohn's disease in a Chinese Han population.

Risk Rs4343(A;A)
Alt Rs4343(A;A)
Reference Rs4343(G;G)
Significance Non-pathogenic
Disease not specified Renal dysplasia
Variation info
Gene ACE
CLNDBN not specified Renal dysplasia
Reversed 0
HGVS NC_000017.10:g.61566031G>A
CLNACC RCV000251736.1, RCV000278989.1,

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