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: rs121918394
rs121918394
APOE
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.860 1.000 14 1989 2012
dbSNP: rs387906567
rs387906567
APOE
0.882 0.200 19 44908774 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.730 1.000 12 1989 2012
dbSNP: rs121918393
rs121918393
APOE
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.830 1.000 10 1987 2012
dbSNP: rs573658040
rs573658040
APOE
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.100 0.900 10 1991 2014
dbSNP: rs121918397
rs121918397
APOE
0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 1.000 9 1989 2012
dbSNP: rs121918397
rs121918397
APOE
0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY 		0.830 1.000 5 1997 2007
dbSNP: rs121918399
rs121918399
APOE
0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY 		0.820 1.000 5 1997 2014
dbSNP: rs267606661
rs267606661
APOE
0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.030 0.667 3 1993 1997
dbSNP: rs764929617
rs764929617
APOE
0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 0.667 3 2003 2014
dbSNP: rs142480126
rs142480126
APOE
19 44907825 missense variant G/A snv 8.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.020 1.000 2 2009 2009
dbSNP: rs1440976751
rs1440976751
APOE
1.000 0.080 19 44907789 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2006 2008
dbSNP: rs267606664
rs267606664
APOE
0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.020 1.000 2 1984 1997
dbSNP: rs573658040
rs573658040
APOE
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		0.020 1.000 2 1996 2006
dbSNP: rs7259620
rs7259620
APOE
0.925 0.120 19 44904531 upstream gene variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 1.000 2 2013 2019
dbSNP: rs7259620
rs7259620
APOE
0.925 0.120 19 44904531 upstream gene variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2018 2019
dbSNP: rs761592007
rs761592007
APOE
0.882 0.160 19 44909013 missense variant G/A snv 1.5E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2000 2012
dbSNP: rs761592007
rs761592007
APOE
0.882 0.160 19 44909013 missense variant G/A snv 1.5E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.020 1.000 2 2000 2012
dbSNP: rs764929617
rs764929617
APOE
0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 1999 2013
dbSNP: rs777551553
rs777551553
APOE
1.000 0.080 19 44906639 stop gained G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2009 2015
dbSNP: rs11542029
rs11542029
APOE
1.000 0.080 19 44907864 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2015 2015
dbSNP: rs11542037
rs11542037
APOE
1.000 0.080 19 44908657 missense variant C/A;T snv 5.2E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.010 1.000 1 1996 1996
dbSNP: rs1167428194
rs1167428194
APOE
1.000 0.080 19 44908634 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2012 2012
dbSNP: rs121918393
rs121918393
APOE
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2001 2001
dbSNP: rs121918393
rs121918393
APOE
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2003 2003
dbSNP: rs121918393
rs121918393
APOE
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2003 2003