rs76353203

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	rare variant with large positive effect

Make rs76353203(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

116830637

Gene

APOC3

is a	snp
is	mentioned by
dbSNP	rs76353203
dbSNP (classic)	rs76353203
ClinGen	rs76353203
ebi	rs76353203
HLI	rs76353203
Exac	rs76353203
Gnomad	rs76353203
Varsome	rs76353203
LitVar	rs76353203
Map	rs76353203
PheGenI	rs76353203
Biobank	rs76353203
1000 genomes	rs76353203
hgdp	rs76353203
ensembl	rs76353203
geneview	rs76353203
scholar	rs76353203
google	rs76353203
pharmgkb	rs76353203
gwascentral	rs76353203
openSNP	rs76353203
23andMe	rs76353203
SNPshot	rs76353203
SNPdbe	rs76353203
MSV3d	rs76353203
GWAS Ctlg	rs76353203

Max Magnitude

4

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 24941081 ]

OMIM	107720
Desc
Variant	0003
Related	also

ClinVar
Risk	rs76353203(G;G) rs76353203(T;T)
Alt	rs76353203(G;G) rs76353203(T;T)
Reference	Rs76353203(C;C)
Significance	Other
Disease	Hyperalphalipoproteinemia 2 Coronary heart disease not provided
Variation	info
Gene	APOC3
CLNDBN	Hyperalphalipoproteinemia 2 Coronary heart disease not provided
Reversed	0
HGVS	NC_000011.9:g.116701353C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019493.29, RCV000128448.1, RCV000419477.1,

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