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rs7213516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) higher cardiovascular risk in African Americans
(A;G) higher cardiovascular risk in African Americans
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position63474189
GeneANAPC16
is asnp
is mentioned by
dbSNPrs7213516
ebirs7213516
HLIrs7213516
Exacrs7213516
Varsomers7213516
Maprs7213516
PheGenIrs7213516
hapmaprs7213516
1000 genomesrs7213516
hgdprs7213516
ensemblrs7213516
gopubmedrs7213516
geneviewrs7213516
scholarrs7213516
googlers7213516
pharmgkbrs7213516
gwascentralrs7213516
openSNPrs7213516
23andMers7213516
23andMe allrs7213516
SNP Nexus

SNPshotrs7213516
SNPdbers7213516
MSV3drs7213516
GWAS Ctlgrs7213516
GMAF0.04316
Max Magnitude0
? (A;A) (A;G) (G;G) 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 risk was largely attributable to nonfatal myocardial infarction in African Americans, with an odds ratio of 6.16 (CI: 2.43-15.60, p < 0.0001) for rs7213516. The high allele frequency of rs7213516(A) in African Americans (16%) compared to Hispanics (4%) and Caucasians (<1%) suggests that these alleles may contribute to ethnic-specific variation in risk. [PMID 18946466OA-icon.png]



GET Evidence
rs7213516
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0546875
summary