rs121918382, APOC3

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Apolipoprotein C-III Deficiency
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
0.800 GeneticVariation UNIPROT Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
Apolipoprotein C-III Deficiency
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
0.800 CausalMutation CLINVAR
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.010 GeneticVariation BEFREE Two naturally occurring mutations in apo3 gene, A23T and K58E, reduce TGs and CVD risk. 30306859 2018
Cholesteryl Ester Transfer Protein Deficiency
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
0.010 GeneticVariation BEFREE Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991