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rs140621530

From SNPedia

Orientationplus
Stabilizedplus
Make rs140621530(G;G)
Make rs140621530(G;T)
Make rs140621530(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position116830897
GeneAPOC3
is asnp
is mentioned by
dbSNPrs140621530
dbSNP (old)rs140621530
ClinGenrs140621530
ebirs140621530
HLIrs140621530
Exacrs140621530
Gnomadrs140621530
Varsomers140621530
Maprs140621530
PheGenIrs140621530
Biobankrs140621530
1000 genomesrs140621530
hgdprs140621530
ensemblrs140621530
gopubmedrs140621530
geneviewrs140621530
scholarrs140621530
googlers140621530
pharmgkbrs140621530
gwascentralrs140621530
openSNPrs140621530
23andMers140621530
23andMe allrs140621530
SNP Nexus

SNPshotrs140621530
SNPdbers140621530
MSV3drs140621530
GWAS Ctlgrs140621530
Max Magnitude
rs140621530, also known as IVS3+1G>T, is a rare variant in the apolipoprotein C3 APOC3 gene.

As reported in a large study published in 2014, it is one of four loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs140621530(T) allele and a corresponding decrease in coronary artery disease.[PMID 24941081OA-icon.png]

ClinVar
Risk rs140621530(T;T)
Alt rs140621530(T;T)
Reference rs140621530(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.116701613G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128451.1, RCV000148018.3,