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ACE

From SNPedia

is agene
is mentioned by
Full nameangiotensin I converting enzyme (peptidyl-dipeptidase A) 1
EntrezGene1636
PheGenI1636
VariationViewer1636
ClinVarACE
GeneCardsACE
dbSNP1636
SADR1636
HugeNav1636
wikipediaACE
googleACE
gopubmedACE
EVSACE
HEFalMpACE
MyGene2ACE
23andMeACE
UniProtP12821
EnsemblENSG00000159640
OMIM106180
# SNPs28
 Max MagnitudeChromosome positionSummary
rs121912703063,496,977
rs121912704063,480,479
rs1244978263,498,888
rs1344744758,919,623
rs1799752063,488,529
rs367797185063,483,494
rs387906576063,482,666
rs397514688063,483,172
rs397514689063,488,713
rs429163,476,833
rs429263,476,980
rs429363,478,305
rs430563,480,868
rs430963,482,562
rs431163,483,402
rs431663,484,948
rs432963,486,097
rs433263,486,920
rs434061,565,892
rs434163,488,629
rs4343263,488,670
rs434463,489,363
rs435163,492,371
rs435363,493,061
rs435963,494,982
rs436263,496,400
rs464699461,565,900
rs771053807063,483,870

SNPs in the ACE gene, which encodes the angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, may influence numerous disparate conditions or phenotypes, including:

Perhaps the best studied ACE SNP is actually not a single nucleotide polymorphism at all; instead, it is an insertion/deletion of an Alu repetitive element in an intron of the ACE gene. Alleles containing the insertion are called "I" alleles, and "D" alleles lack the repetitive element. There are several dbSNP entries all tagging this single insertion/deletion SNP:


The ACE protein is also the target of the ACE-inhibitor drugs, used to treat hypertension (high blood pressure) and congestive heart failure. Perhaps not surprisingly, therefore, ACE SNPs have been reported to influence the degree to which individuals respond to ACE-inhibitors. [PMID 17885551] SNPs reported to influence response in African Americans include:

  • rs4344, also known as G12269A
  • rs4359, also known as C17888T