rs12130333
| Orientation | plus |
| Stabilized | plus |
| Make rs12130333(C;C) |
| Make rs12130333(C;T) |
| Make rs12130333(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 62726106 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12130333 |
| dbSNP (classic) | rs12130333 |
| ClinGen | rs12130333 |
| ebi | rs12130333 |
| HLI | rs12130333 |
| Exac | rs12130333 |
| Gnomad | rs12130333 |
| Varsome | rs12130333 |
| LitVar | rs12130333 |
| Map | rs12130333 |
| PheGenI | rs12130333 |
| Biobank | rs12130333 |
| 1000 genomes | rs12130333 |
| hgdp | rs12130333 |
| ensembl | rs12130333 |
| geneview | rs12130333 |
| scholar | rs12130333 |
| rs12130333 | |
| pharmgkb | rs12130333 |
| gwascentral | rs12130333 |
| openSNP | rs12130333 |
| 23andMe | rs12130333 |
| SNPshot | rs12130333 |
| SNPdbe | rs12130333 |
| MSV3d | rs12130333 |
| GWAS Ctlg | rs12130333 |
| GMAF | 0.1185 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS | |
|---|---|
| SNP | rs12130333 |
| PubMedID | [PMID 18193044 ]
|
| Condition | Triglycerides |
| Gene | ANGPTL3, DOCK7, ATG4C |
| Risk Allele | C |
| pValue | 2.00E-008 |
| OR | 0.11 |
| 95% CI | 0.07-0.15) % SD lowe |
[PMID 19656773] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia
[PMID 18596051] Polygenic determinants of severe hypertriglyceridemia.
[PMID 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
[PMID 19197348] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
[PMID 19802338] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
[PMID 21691831] Triglyceride level-influencing functional variants of the ANGPTL3, CILP2, and TRIB1 loci in ischemic stroke.
[PMID 22896670] Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia.
