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rs138326449

From SNPedia

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


Make rs138326449(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position116830638
GeneAPOC3
is asnp
is mentioned by
dbSNPrs138326449
ebirs138326449
HLIrs138326449
Exacrs138326449
Varsomers138326449
Maprs138326449
PheGenIrs138326449
hapmaprs138326449
1000 genomesrs138326449
hgdprs138326449
ensemblrs138326449
gopubmedrs138326449
geneviewrs138326449
scholarrs138326449
googlers138326449
pharmgkbrs138326449
gwascentralrs138326449
openSNPrs138326449
23andMers138326449
23andMe allrs138326449
SNP Nexus

SNPshotrs138326449
SNPdbers138326449
MSV3drs138326449
GWAS Ctlgrs138326449
Max Magnitude4
rs138326449, also known as IVS2+1G>A, is a rare variant in the apolipoprotein C3 APOC3 gene.

As reported in two large studies published in 2014, rs138326449 is one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs138326449(A) allele and a corresponding decrease in coronary artery disease.[PMID 24941081OA-icon.png][PMID 24941082]

[PMID 25225788OA-icon.png] A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

ClinVar
Risk rs138326449(A;A)
Alt rs138326449(A;A)
Reference rs138326449(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.116701354G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128449.1, RCV000148017.3,