rs138326449
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 rs138326449(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 116830638 |
| Gene | APOC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138326449 |
| dbSNP (classic) | rs138326449 |
| ClinGen | rs138326449 |
| ebi | rs138326449 |
| HLI | rs138326449 |
| Exac | rs138326449 |
| Gnomad | rs138326449 |
| Varsome | rs138326449 |
| LitVar | rs138326449 |
| Map | rs138326449 |
| PheGenI | rs138326449 |
| Biobank | rs138326449 |
| 1000 genomes | rs138326449 |
| hgdp | rs138326449 |
| ensembl | rs138326449 |
| geneview | rs138326449 |
| scholar | rs138326449 |
| rs138326449 | |
| pharmgkb | rs138326449 |
| gwascentral | rs138326449 |
| openSNP | rs138326449 |
| 23andMe | rs138326449 |
| SNPshot | rs138326449 |
| SNPdbe | rs138326449 |
| MSV3d | rs138326449 |
| GWAS Ctlg | rs138326449 |
| Max Magnitude | 4 |
rs138326449, also known as IVS2+1G>A, is a rare variant in the apolipoprotein C3 APOC3 gene.
As reported in two large studies published in 2014, rs138326449 is one of several loss of function mutations in the APOC3 gene associated with a >40% lower average triglyceride level in individuals carrying one rs138326449(A) allele and a corresponding decrease in coronary artery disease.[PMID 24941081
][PMID 24941082]
[PMID 25225788] A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
| ClinVar | |
|---|---|
| Risk | rs138326449(A;A) |
| Alt | rs138326449(A;A) |
| Reference | Rs138326449(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.116701354G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000128449.1, RCV000148017.3, |
