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: 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: 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: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2012 2013
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2012 2013
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.030 1.000 3 2001 2018
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.730 1.000 3 1988 1994
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.700 1.000 3 2014 2019
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0497327
Disease: Dementia
Dementia 		0.030 1.000 3 2001 2018
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.720 1.000 3 2006 2018
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 1.000 3 2006 2019
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 3 2018 2018
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.720 1.000 3 2017 2019
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2014 2019
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2012 2013
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: rs769452
rs769452
APOE
0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 1.000 3 2013 2016
dbSNP: rs769455
rs769455
APOE
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 3 2014 2019
dbSNP: rs769455
rs769455
APOE
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 1.000 3 2013 2016
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: rs1233347077
rs1233347077
APOE
0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 < 0.001 2 2010 2011
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