| ? | (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.
| GET Evidence
|
| rs12130333
|
| aa_change
|
|
| aa_change_short
|
|
| impact
|
pathogenic
|
| qualified_impact
|
Insufficiently evaluated pathogenic
|
| overall_frequency
|
0.179688
|
| summary
|
|
