rs140621530
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common genotype |
| Make rs140621530(G;T) |
| Make rs140621530(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 116830897 |
| Gene | APOC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140621530 |
| dbSNP (classic) | rs140621530 |
| ClinGen | rs140621530 |
| ebi | rs140621530 |
| HLI | rs140621530 |
| Exac | rs140621530 |
| Gnomad | rs140621530 |
| Varsome | rs140621530 |
| LitVar | rs140621530 |
| Map | rs140621530 |
| PheGenI | rs140621530 |
| Biobank | rs140621530 |
| 1000 genomes | rs140621530 |
| hgdp | rs140621530 |
| ensembl | rs140621530 |
| geneview | rs140621530 |
| scholar | rs140621530 |
| rs140621530 | |
| pharmgkb | rs140621530 |
| gwascentral | rs140621530 |
| openSNP | rs140621530 |
| 23andMe | rs140621530 |
| SNPshot | rs140621530 |
| SNPdbe | rs140621530 |
| MSV3d | rs140621530 |
| GWAS Ctlg | rs140621530 |
| Max Magnitude | 0 |
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 24941081
]
| ClinVar | |
|---|---|
| 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, |
