APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918382
rs121918382
0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.800 1.000 1 1991 1991
dbSNP: rs138326449
rs138326449
0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs147210663
rs147210663
0.925 0.080 11 116830844 missense variant G/A;T snv 8.7E-04; 8.0E-06
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs76353203
rs76353203
1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.700 0