Rs4340

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Orientationplus
Make rs4340(C;C)
Make rs4340(C;T)
Make rs4340(T;T)
ReferenceGRCh37 37.1/131
Chromosome17
Position61565892
GeneACE
is asnp
is mentioned by
dbSNPrs4340
Exacrs4340
PheGenIrs4340
nextbiors4340
hapmaprs4340
1000 genomesrs4340
hgdprs4340
ensemblrs4340
gopubmedrs4340
geneviewrs4340
scholarrs4340
googlers4340
pharmgkbrs4340
gwascentralrs4340
openSNPrs4340
23andMers4340
23andMe allrs4340
SNP Nexus

SNPshotrs4340
SNPdbers4340
MSV3drs4340
rs4340 is one of four SNPs representing perhaps the best studied ACE SNP. It 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. The other dbSNP entries all tagging this same single insertion/deletion SNP are:

There are numerous association studies reported for these SNPs. Examples:

  • (I;I) homozygotes respond better to Viagra than (D;I) or (D;D) individuals, in a study of 100+ Caucasian men with erectile dysfunction. (OR 3.07, CI: 1.03 - 9.13, p=0.04). [PMID 12837457]
  • (I;I) homozygotes are are higher risk for early-onset psoriasis, with an odds ratio of 1.88 (CI: 1.12-3.15, p=0.016).[PMID 18031458]

[PMID 18333655] (I) is found more commonly in sherpas

Neighborrs1799752
Distance2
Neighborrs4646994
Distance8



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

OMIM106180
Desc
Variant0001
Relatedalso

[PMID 21722816] Contribution of Deletion in Angiotensin-converting Enzyme But Not A1166C Angiotensin II Type-1 Receptor Gene Polymorphisms to Clinical Outcomes in Atherothrombotic Disease [PMID 17092869] Haplotype structure of five SNPs within the ACE gene in the Tunisian population.


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


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


[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.

[PMID 22908855] The linkage disequilibrium pattern of the angiotensin converting enzyme gene in Arabic and Asian population groups [PMID 23107763] Host genetic risk factors for community-acquired pneumonia.

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

[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification