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: rs200703101
rs200703101
APOE
19 44908757 missense variant G/C;T snv
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism 		0.700 0
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.700 1.000 1 2017 2017
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: 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: 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: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2009 2009
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0236848
Disease: Age-related cognitive decline
Age-related cognitive decline 		0.010 1.000 1 2017 2017
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2015 2015
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		0.800 0
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.700 1.000 8 1997 2016
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 0.750 4 1994 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: 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: rs199768005
rs199768005
APOE
0.882 0.160 19 44909057 missense variant T/A snv 4.5E-04 4.9E-04
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2014 2014
dbSNP: rs387906567
rs387906567
APOE
0.882 0.200 19 44908774 missense variant C/G;T snv 6.3E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2019 2019
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2017 2017
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 0.950 20 2009 2019
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.890 0.933 15 2005 2019
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.720 1.000 5 2011 2019
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.740 1.000 5 2009 2018
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: 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: 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: 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