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rs147210663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 rare variant with large positive effect
(G;G) 0 common in ClinVar


Make rs147210663(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position116830844
GeneAPOC3
is asnp
is mentioned by
dbSNPrs147210663
ebirs147210663
HLIrs147210663
Exacrs147210663
Varsomers147210663
Maprs147210663
PheGenIrs147210663
hapmaprs147210663
1000 genomesrs147210663
hgdprs147210663
ensemblrs147210663
gopubmedrs147210663
geneviewrs147210663
scholarrs147210663
googlers147210663
pharmgkbrs147210663
gwascentralrs147210663
openSNPrs147210663
23andMers147210663
23andMe allrs147210663
SNP Nexus

SNPshotrs147210663
SNPdbers147210663
MSV3drs147210663
GWAS Ctlgrs147210663
Max Magnitude4
rs147210663, also known as A43T, is a rare variant in the apolipoprotein C3 APOC3 gene.

As reported in two large studies published in 2014, rs147210663 is one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs147210663(A) allele and a corresponding decrease in coronary artery disease.[PMID 24941081OA-icon.png][PMID 24941082]

ClinVar
Risk rs147210663(A,T;A,T)
Alt rs147210663(A,T;A,T)
Reference rs147210663(G;G)
Significance Other
Disease Coronary heart disease Hyperalphalipoproteinemia 2
Variation info
Gene APOC3
CLNDBN Coronary heart disease Hyperalphalipoproteinemia 2
Reversed 0
HGVS NC_000011.9:g.116701560G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128450.1, RCV000148019.3,