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: 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
dbSNP: rs121918393
rs121918393
APOE
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.010 1.000 1 2000 2000
dbSNP: rs121918393
rs121918393
APOE
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders 		0.010 1.000 1 2005 2005
dbSNP: rs121918394
rs121918394
APOE
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2000 2000
dbSNP: rs121918394
rs121918394
APOE
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C2047520
Disease: Mixed hyperlipidemia (disorder)
Mixed hyperlipidemia (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs121918394
rs121918394
APOE
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs121918394
rs121918394
APOE
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		0.010 1.000 1 2017 2017
dbSNP: rs121918397
rs121918397
APOE
0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		0.010 1.000 1 2001 2001
dbSNP: rs121918399
rs121918399
APOE
0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
dbSNP: rs1233347077
rs1233347077
APOE
0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06
CUI: C0497327
Disease: Dementia
Dementia 		0.010 1.000 1 2006 2006
dbSNP: rs1233347077
rs1233347077
APOE
0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 1.000 1 2006 2006
dbSNP: rs1233347077
rs1233347077
APOE
0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2007 2007
dbSNP: rs1270059098
rs1270059098
APOE
1.000 0.080 19 44906634 synonymous variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2018 2018
dbSNP: rs1275147925
rs1275147925
APOE
1.000 0.080 19 44906613 missense variant A/G snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2006 2006
dbSNP: rs1335550286
rs1335550286
APOE
1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2014 2014
dbSNP: rs1335550286
rs1335550286
APOE
1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 1.000 1 2014 2014
dbSNP: rs140808909
rs140808909
APOE
0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 1.000 1 1999 1999
dbSNP: rs140808909
rs140808909
APOE
0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 1999 1999
dbSNP: rs140808909
rs140808909
APOE
0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2014 2014
dbSNP: rs140808909
rs140808909
APOE
0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 1999 1999
dbSNP: rs140808909
rs140808909
APOE
0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 1.000 1 2014 2014
dbSNP: rs1424027593
rs1424027593
APOE
1.000 0.080 19 44908639 missense variant C/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs1438607869
rs1438607869
APOE
1.000 0.080 19 44908741 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2012 2012
dbSNP: rs1458301734
rs1458301734
APOE
1.000 0.080 19 44908687 missense variant G/A;T snv 5.9E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2004 2004
dbSNP: rs1466963971
rs1466963971
APOE
0.925 0.120 19 44908640 missense variant T/G snv 4.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.010 1.000 1 1995 1995