Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

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]

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,