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: rs1081105
rs1081105
APOE
1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2018 2019
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: rs28931579
rs28931579
APOE
19 44909236 missense variant A/C snv 9.5E-05 6.3E-05
CUI: C4015881
Disease: APOE4(+) PHENOTYPE
APOE4(+) PHENOTYPE 		0.700 0
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: 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: rs115299243
rs115299243
APOE
19 44907291 non coding transcript exon variant A/G snv 7.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
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: rs28931576
rs28931576
APOE
19 44907894 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C4015877
Disease: APOE3(-)-FREIBURG PHENOTYPE
APOE3(-)-FREIBURG PHENOTYPE 		0.700 0
dbSNP: rs397514253
rs397514253
APOE
1.000 0.080 19 44908531 splice acceptor variant A/G snv
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 0
dbSNP: rs449647
rs449647
APOE
0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.730 1.000 4 2009 2018
dbSNP: rs449647
rs449647
APOE
0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2011 2011
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: rs981058595
rs981058595
APOE
1.000 0.080 19 44908847 missense variant C/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 < 0.001 1 2014 2014
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: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.100 1.000 12 1987 2014
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: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.040 0.750 4 1984 2004
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 1.000 3 1998 2000
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		0.030 1.000 3 1995 2001
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 1.000 3 1998 2000
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 1.000 3 2004 2007
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