rs147210663
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4 | rare variant with large positive effect |
(G;G) | 0 | common in ClinVar |
Make rs147210663(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 116830844 |
Gene | APOC3 |
is a | snp |
is | mentioned by |
dbSNP | rs147210663 |
dbSNP (classic) | rs147210663 |
ClinGen | rs147210663 |
ebi | rs147210663 |
HLI | rs147210663 |
Exac | rs147210663 |
Gnomad | rs147210663 |
Varsome | rs147210663 |
LitVar | rs147210663 |
Map | rs147210663 |
PheGenI | rs147210663 |
Biobank | rs147210663 |
1000 genomes | rs147210663 |
hgdp | rs147210663 |
ensembl | rs147210663 |
geneview | rs147210663 |
scholar | rs147210663 |
rs147210663 | |
pharmgkb | rs147210663 |
gwascentral | rs147210663 |
openSNP | rs147210663 |
23andMe | rs147210663 |
SNPshot | rs147210663 |
SNPdbe | rs147210663 |
MSV3d | rs147210663 |
GWAS Ctlg | rs147210663 |
Max Magnitude | 4 |
rs147210663, also known as A43T, is a rare variant in the apolipoprotein C3 APOC3 gene.
As reported in two large studies published in 2014, rs147210663 is one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs147210663(A) allele and a corresponding decrease in coronary artery disease.[PMID 24941081][PMID 24941082]
ClinVar | |
---|---|
Risk | rs147210663(A;A) rs147210663(T;T) |
Alt | rs147210663(A;A) rs147210663(T;T) |
Reference | Rs147210663(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.116701560G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128450.1, RCV000148019.3, |