Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917821
rs121917821
ZPR1 ; APOA5
0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2018 2018
dbSNP: rs143292359
rs143292359
ZPR1 ; APOA5
11 116790285 missense variant G/A snv 5.9E-04 5.0E-04
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 < 0.001 1 2008 2008
dbSNP: rs201079485
rs201079485
ZPR1 ; APOA5
0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		0.010 1.000 1 2009 2009
dbSNP: rs201079485
rs201079485
ZPR1 ; APOA5
0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2012 2012
dbSNP: rs2075290
rs2075290
ZPR1
0.882 0.160 11 116782580 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016
dbSNP: rs2075290
rs2075290
ZPR1
0.882 0.160 11 116782580 intron variant C/G;T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2013 2013
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 1.000 1 2012 2012
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2012 2012
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2006 2006
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial 		0.010 1.000 1 2010 2010
dbSNP: rs2075294
rs2075294
ZPR1
11 116787406 intron variant G/T snv 3.5E-02
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 1.000 1 2019 2019
dbSNP: rs2160669
rs2160669
ZPR1
1.000 0.040 11 116776891 3 prime UTR variant C/T snv 0.92
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2019 2019
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0340288
Disease: Stable angina
Stable angina 		0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.010 1.000 1 2014 2014
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial 		0.010 1.000 1 2010 2010
dbSNP: rs3135507
rs3135507
ZPR1 ; APOA5
0.925 0.120 11 116790772 missense variant C/T snv 5.0E-02 5.5E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2005 2005
dbSNP: rs3135507
rs3135507
ZPR1 ; APOA5
0.925 0.120 11 116790772 missense variant C/T snv 5.0E-02 5.5E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 < 0.001 1 2018 2018
dbSNP: rs574363219
rs574363219
ZPR1 ; APOA5
1.000 0.040 11 116790427 missense variant C/T snv 1.4E-04
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 1.000 1 2014 2014