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rs76353203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 rare variant with large positive effect
Make rs76353203(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position116830637
GeneAPOC3
is asnp
is mentioned by
dbSNPrs76353203
ebirs76353203
HLIrs76353203
Exacrs76353203
Varsomers76353203
Maprs76353203
PheGenIrs76353203
hapmaprs76353203
1000 genomesrs76353203
hgdprs76353203
ensemblrs76353203
gopubmedrs76353203
geneviewrs76353203
scholarrs76353203
googlers76353203
pharmgkbrs76353203
gwascentralrs76353203
openSNPrs76353203
23andMers76353203
23andMe allrs76353203
SNP Nexus

SNPshotrs76353203
SNPdbers76353203
MSV3drs76353203
GWAS Ctlgrs76353203
Max Magnitude4

rs76353203, also known as R19X, is a rare variant in the apolipoprotein C3 APOC3 gene.

As reported in two large studies published in 2014, rs76353203 one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs76353203(T) allele and a corresponding decrease in coronary artery disease.[PMID 24941082][PMID 24941081OA-icon.png]

OMIM107720
Desc
Variant0003
Relatedalso
ClinVar
Risk rs76353203(G,T;G,T)
Alt rs76353203(G,T;G,T)
Reference rs76353203(C;C)
Significance Other
Disease Hyperalphalipoproteinemia 2 Coronary heart disease
Variation info
Gene APOC3
CLNDBN Hyperalphalipoproteinemia 2 Coronary heart disease
Reversed 0
HGVS NC_000011.9:g.116701353C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019493.29, RCV000128448.1,


[PMID 19074352OA-icon.png] A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.