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: rs1050106163
rs1050106163
APOE
1.000 0.040 19 44908618 missense variant C/T snv 7.0E-06
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.010 1.000 1 1996 1996
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: 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: 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: rs11542035
rs11542035
APOE
19 44908706 missense variant G/A snv 1.9E-05 2.8E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 1.000 1 1995 1995
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: 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: 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: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 < 0.001 1 2009 2009
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0014173
Disease: Endometrial Hyperplasia
Endometrial Hyperplasia 		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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2005 2005
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 1.000 1 1988 1988
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2006 2006
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2005 2005
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY 		0.010 1.000 1 2007 2007
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		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: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		0.010 1.000 1 1997 1997
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		0.010 1.000 1 1988 1988
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.010 1.000 1 2014 2014
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.010 1.000 1 2014 2014