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rs4290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) higher cardiovascular risk in African Americans
(T;T) higher cardiovascular risk in African Americans
ReferenceGRCh38 38.1/141
Chromosome17
Position63474767
is asnp
is mentioned by
dbSNPrs4290
ebirs4290
HLIrs4290
Exacrs4290
Varsomers4290
Maprs4290
PheGenIrs4290
hapmaprs4290
1000 genomesrs4290
hgdprs4290
ensemblrs4290
gopubmedrs4290
geneviewrs4290
scholarrs4290
googlers4290
pharmgkbrs4290
gwascentralrs4290
openSNPrs4290
23andMers4290
23andMe allrs4290
SNP Nexus

SNPshotrs4290
SNPdbers4290
MSV3drs4290
GWAS Ctlgrs4290
GMAF0.05418
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs7213516 and rs4290 are SNPs located 2-3 kb upstream of the angiotensin I-converting enzyme (ACE) gene, and therefore potentially of regulatory importance.

In a study in which 1,000 hypertensive individuals participating in the International Verapamil SR Trandolapril Study Genetic Substudy (INVEST-GENES) were tested for associations with adverse cardiovascular outcomes, both rs4290 and rs7213516 were associated with higher risk. The higher allele frequencies for the risk alleles in African Americans compared to Hispanics and Caucasians suggests that these alleles may contribute to ethnic-specific variation in risk. [PMID 18946466OA-icon.png]



GET Evidence
rs4290
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.078125
summary