APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
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: rs2266788
rs2266788
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs2075291
rs2075291
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.720 1.000 3 2008 2019
dbSNP: rs651821
rs651821
0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.720 1.000 2 2017 2017
dbSNP: rs662799
rs662799
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.100 0.900 10 2011 2017
dbSNP: rs3135506
rs3135506
0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.070 1.000 7 2007 2016
dbSNP: rs121917821
rs121917821
0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018