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rs13447447

From SNPedia

Orientationplus
Stabilizedplus
Make rs13447447(-;-)
Make rs13447447(-;N)
Make rs13447447(N;N)
Chromosome17
Position58919623
GeneACE
is asnp
is mentioned by
dbSNPrs13447447
dbSNP (classic)rs13447447
ClinGenrs13447447
ebirs13447447
HLIrs13447447
Exacrs13447447
Gnomadrs13447447
Varsomers13447447
LitVarrs13447447
Maprs13447447
PheGenIrs13447447
Biobankrs13447447
1000 genomesrs13447447
hgdprs13447447
ensemblrs13447447
geneviewrs13447447
scholarrs13447447
googlers13447447
pharmgkbrs13447447
gwascentralrs13447447
openSNPrs13447447
23andMers13447447
SNPshotrs13447447
SNPdbers13447447
MSV3drs13447447
GWAS Ctlgrs13447447
StatusDeleted
Max Magnitude0

rs13447447 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]