RS138326449 APOC3

Health Risk Chr 11:116830637 snv splice donor variant
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What This Variant Does
"rs138326449, also known as IVS2 1G&gt
Associated Conditions
GWAS Studies (20)
Trait Risk Allele OR / Beta P-value Study
Triglyceride levels OR: 1.26 2E-787 PubMed
HDL cholesterol levels OR: 0.99 1E-500 PubMed
Apolipoprotein A1 levels OR: 0.84 1E-325 PubMed
HDL cholesterol A OR: 0.73 5E-134 PubMed
Monounsaturated fatty acids to total fatty acids percentage A 4E-103 PubMed
Monounsaturated fatty acids to total fatty acids percentage A 6E-97 PubMed
Polyunsaturated fatty acids to monounsaturated fatty acids ratio A 2E-88 PubMed
Polyunsaturated fatty acids to monounsaturated fatty acids ratio A 2E-83 PubMed
Omega-6 fatty acids to total fatty acids percentage A 2E-74 PubMed
Omega-6 fatty acids to total fatty acids percentage A 4E-66 PubMed
Monounsaturated fatty acids to total fatty acids percentage A 6E-63 PubMed
Monounsaturated fatty acid levels A 2E-59 PubMed
Monounsaturated fatty acids to total fatty acids percentage A 3E-58 PubMed
Polyunsaturated fatty acids to monounsaturated fatty acids ratio A 1E-55 PubMed
Monounsaturated fatty acid levels A 2E-55 PubMed
Polyunsaturated fatty acids to total fatty acids percentage A 2E-53 PubMed
Polyunsaturated fatty acids to monounsaturated fatty acids ratio A 1E-51 PubMed
Polyunsaturated fatty acids to total fatty acids percentage A 2E-49 PubMed
Red cell distribution width OR: 0.32 8E-49 PubMed
Omega-6 fatty acids to total fatty acids percentage A 1E-47 PubMed
ClinVar Assertions (2)
NM_000040.3(APOC3):c.55+1G>A
· 9 submitters
NM_000040.3(APOC3):c.55+1G>A
· 9 submitters
Population Frequencies
gnomAD ALL
99.8%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
0.1%
1kG EUR
99.7%
1kG SAS
100%
Other Variants in APOC3
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